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Woolly Hair Autosomal Recessive
Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair.Hutchinson P E, Cairns R J, Wells RS (1974) Woolly hair: clinical and general aspects. Trans St John's Hosp Derm Soc 60:160-177 Signs/symptoms The scalp hair is sparse, short and curly. It grows slowly and stops growing after a few inches. Genetics This condition may be part of a more complex syndrome or an isolated mutation. Isolated cases are due to mutations in the lipase member H ( LIPH), lysophosphatidic acid receptor 6 (LPAR6) or keratin 2A ( KRT2) genes. Isolated cases are inherited in an autosomal recessive fashion. Epidemiology This is rare disorder. Precise estimates of its prevalence are not known. Diagnosis This is made by light microscopy. A number of structural anomalies are visible under light microscopy including trichorrhexis nodosa Trichorrhexis nodosa is a defect in the hair shaft characterized by thickening or weak points (nodes) that cause the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LIPH (gene)
Lipase member H is an enzyme that in humans is encoded by the ''LIPH'' 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 .... This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. References Further reading * * * * * * * * {{gene-3-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |