SynaptotagminSynaptotagmins (SYTs) constitute a family of membrane-trafficking proteins that are characterized by an N-terminaltransmembrane region (TMR), a variable linker, and two C-terminalC2 domains - C2A and C2B. There are 17 isoforms in the mammalian synaptotagmin family.SYT1-associated neurodevelopmental disorderSYT1-associated neurodevelopmental disorder, also known as Baker-Gordon syndrome, is a rare genetic disorder caused by mutations in the synaptotagmin-1 (SYT1) gene.Neurodevelopmental disorderNeurodevelopmental disorders (NDDs) are a diverse group of complex behavioral and cognitive conditions caused by the abnormal, or disrupted development of the brain, or by injury or infection during early childhood. These conditions generally appear in early childhood, usually pre-school age, and can persist into adulthood. NDDs are different from neurocognitive disorders that are acquired and not developmental.
Online Mendelian Inheritance in ManOnline Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. As of 28 June 2019, approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes.
STX1AMore reference expression dataBioGPSEnsemblUniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)Chr 7: 73.7 – 73.72 MbChr 5: 135.05 – 135.08 MbPubMed searchWikidataSyntaxin-1A is a protein that in humans is encoded by the STX1Agene. FunctionSynaptic vesicles store neurotransmitters that are released during calcium-regulated exocytosis.
ProteinBiomolecule consisting of chains of amino acid residuesA representation of the 3D structure of the protein myoglobin showing turquoise α-helices. This protein was the first to have its structure solved by X-ray crystallography. Toward the right-center among the coils, a prosthetic group called a heme group (shown in gray) with a bound oxygen molecule (red).Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acidresidues.
SNARE proteinSNARE proteins (soluble NSF attachment protein receptors) are a large protein family consisting of at least 24 members in yeasts and more than 60 members in mammalian and plant cells. The primary role of SNARE proteins is to mediate the fusion of vesicles with the target membrane; this notably mediates exocytosis, but can also mediate the fusion of vesicles with membrane-bound compartments (such as a lysosome).
GeneIn biology, the word gene has two meanings. The Mendelian gene is a basic unit of . The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of RNA or protein from a gene), DNA is first copied into RNA. RNA can be directly functional or be the intermediate template for the synthesis of a protein.
C2 domainA C2 domain is a proteinstructural domain involved in targeting proteins to cell membranes. The typical version (PKC-C2) has a beta-sandwich composed of 8 β-strands that co-ordinates two or three calcium ions, which bind in a cavity formed by the first and final loops of the domain, on the membrane binding face. Many other C2 domain families don't have calcium binding activity.
STX2More reference expression dataBioGPSEnsemblUniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)Chr 12: 130.79 – 130.84 MbChr 5: 129.06 – 129.09 MbPubMed searchWikidataSyntaxin-2, also known as epimorphin, is a protein that in humans is encoded by the STX2gene. The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles.
S100A13S100 calcium-binding protein A13 (S100A13) is a protein that in humans is encoded by the S100A13 gene.
SNAP25Synaptosomal-Associated Protein, 25kDa (SNAP-25) is a Target Soluble NSF (N-ethylmaleimide-sensitive factor) Attachment Protein Receptor (t-SNARE) protein encoded by the SNAP25 gene found on chromosome 20p12.2 in humans. SNAP-25 is a component of the trans-SNARE complex, which accounts for membrane fusion specificity and directly executes fusion by forming a tight complex that brings the synaptic vesicle and plasma membranes together.*As an Amazon Associate I earn from qualifying purchases.