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Isolated Hypogonadotropic Hypogonadism
Isolated hypogonadotropic hypogonadism (IHH), also called idiopathic or congenital hypogonadotropic hypogonadism (CHH), as well as isolated or congenital gonadotropin-releasing hormone deficiency (IGD), is a medical condition, condition which results in a small subset of cases of hypogonadotropic hypogonadism (HH) due to deficiency in or insensitivity to gonadotropin-releasing hormone (GnRH) where the function and anatomy of the anterior pituitary is otherwise normal and secondary causes of HH are not present. Presentation Congenital hypogonadotropic hypogonadism presents as hypogonadism, e.g., delayed puberty, reduced or absent puberty,Young J. Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. low libido, infertility, etc. due to an impaired release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and a resultant lack of sex steroid and peptide ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Condition
A disease is a particular abnormal condition that negatively affects the structure or function (biology), function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergy, allergies and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, Abnormality (behavior), dysfunction, distress (medicine), distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injury, injuries, disability, disabilities, #Disorder, disorders, s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FGFR1
Fibroblast growth factor receptor 1 (FGFR1), also known as basic fibroblast growth factor receptor 1, fms-related tyrosine kinase-2 / Pfeiffer syndrome, and CD331, is a receptor tyrosine kinase whose ligands are specific members of the fibroblast growth factor family. FGFR1 has been shown to be associated with Pfeiffer syndrome, and clonal eosinophilias. Gene The ''FGFR1'' gene is located on human chromosome 8 at position p11.23 (i.e. 8p11.23), has 24 exons, and codes for a Precursor mRNA that is alternatively spliced at exons 8A or 8B thereby generating two mRNAs coding for two FGFR1 isoforms, FGFR1-IIIb (also termed FGFR1b) and FGFR1-IIIc (also termed FGFR1c), respectively. Although these two isoforms have different tissue distributions and FGF-binding affinities, FGFR1-IIIc appears responsible for most of functions of the FGFR1 gene while FGFR1-IIIb appears to have only a minor, somewhat redundant functional role. There are four other members of the ''FGFR1'' gene family: FGF ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TACR3
Tachykinin receptor 3, also known as TACR3, is a protein which in humans is encoded by the ''TACR3'' gene. Function This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. Selective ligands A number of selective ligands are available for NK3. NK3 receptor antagonists are being investigated as treatments for various indications. Agonists * Neurokinin B – endogenous peptide ligand, also interacts with other neurokinin receptors but has highest affinity for NK3 * Senktide – 7-amino acid polypeptide, NK3 selective, CAS# 106128-89-6 Antagonists * Elinzanetant (BAY-3427080 GSK-1144814, NT-814) * Fezolinetant (ESN-364) * Osanetant (SR-142,80 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KISS1R
The KiSS1-derived peptide receptor (also known as GPR54 or the Kisspeptin receptor) is a G protein-coupled receptor which binds the peptide hormone kisspeptin (metastin). Kisspeptin is encoded by the metastasis suppressor gene KISS1, which is expressed in a variety of endocrine and gonadal tissues. Activation of the kisspeptin receptor is linked to the phospholipase C and inositol trisphosphate second messenger cascades inside the cell. Function Kisspeptin is involved in the regulation of endocrine function and the onset of puberty, with activation of the kisspeptin receptor triggering release of gonadotropin-releasing hormone (GnRH), and release of kisspeptin itself being inhibited by oestradiol but enhanced by GnRH. Reductions in kisspeptin levels with age may conversely be one of the reasons behind age-related declines in levels of other endocrine hormones such as luteinizing hormone. Ligands No non-peptide ligands for this receptor have yet been discovered, but as of 2009 b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WDR11 (gene)
WD repeat-containing protein 11 (WDR11) also known as bromodomain and WD repeat-containing protein 2 (BRWD2) is a protein that in humans is encoded by the WDR11 gene. Function This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. WDR11 has been shown to be part of a trimer with FAM91A1 (Family With Sequence Similarity 91 Member A1) and C17orf75, as elicited through immunoprecipitation, fractionation, and mass spectrometry. This trimer has been proposed to promote the Golgi’s capture of vesicles. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Clinical significance This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SEMA3A
Semaphorin-3A is a protein that in humans is encoded by the ''SEMA3A'' gene. Function The ''SEMA3A'' gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted Semaphorin-3A protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Semaphorin-3A is secreted by neurons and surrounding tissue to guide migrating cells and axons in the developing nervous system. Axon pathfinding is the process by which neurons follow very precise paths, sends out axons, and react to specific chemical environments to reach the correct endpoint. The guidance is critical for the precise formation of neurons and the surrounding vasculature. Guidance cues, such as Sema3A, induce the collapse and paralysis of neuronal grow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DUSP6
Dual specificity phosphatase 6 (DUSP6) is an enzyme that in humans is encoded by the ''DUSP6'' gene. Function The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas and, unlike most other members of this family, is localized in the cyto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPRY4
Protein sprouty homolog 4 is a protein that in humans is encoded by the ''SPRY4'' gene. Function SPRY4 is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. It is positioned upstream of RAS (see HRAS; MIM 190020) activation and impairs the formation of active GTP-RAS (Leeksma et al., 2002). Interactions SPRY4 has been shown to interact with TESK1. See also *MAPK signaling pathway *Ras subfamily Ras, from "Rat sarcoma virus", is a family of related proteins that are expressed in all animal cell lineages and organs. All Ras protein family members belong to a class of protein called small GTPase, and are involved in transmitting signals ... References Further reading * * * * * * External links PDBe-KBprovides an overview of all the structure information available in the PDB for Human Protein sprouty homolog 4 (SPRY4) SPR domain Human proteins {{gene-5-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FLRT3
Leucine-rich repeat transmembrane protein FLRT3 is a protein that in humans is encoded by the ''FLRT3'' gene. FLRT1, FLRT2 and FLRT3 are members of the fibronectin leucine rich transmembrane protein (FLRT) family. They may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. FLRT3 shares 55% amino acid sequence identity with FLRT1 and 44% identity with FLRT2. FLRT3 is expressed in kidney, brain, pancreas, skeletal muscle, lung, liver, placenta, and heart The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide t .... Two alternatively spliced transcript variants encoding the same protein have been described for this gene. References Further reading * * * * * * * {{gene-20-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHD7
Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the ''CHD7'' gene. CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome. This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily. Model organisms Model organisms have been used in the study of CHD7 function. A conditional knockout mouse line, called ''Chd7tm2a(EUCOMM)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on mutant mice and five significant abnormalities were observed. No homozygous mutant em ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nasal Embryonic LHRH Factor
Nasal embryonic luteinizing hormone-releasing hormone factor is a protein that in humans is encoded by the ''NELF'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... References Further reading * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PROKR2
Prokineticin receptor 2 (PKR2), is a dimeric G protein-coupled receptor encoded by the PROKR2 gene in humans. Function Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. PKR2 is composed of 384 amino acids. Asparagine residues at position 7 and 27 undergo N-linked glycosylation. Cysteine residues at position 128 and 208 form a disulfide bond. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. PKR2 is also linked to mammalian circadian rhythm. Levels of PKR2 mRNA fluctuate in the suprachiasmatic nucleus, increasing during the day and decreasing at night. Mutations in the ''PROKR2'' (also known as ''KAL3'') gene have been implicated in hypogonadotropic hypogonadism and gynecomastia. Total loss of PKR2 in mice leads to spontaneous torp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
