OCA2 melanosomal transmembrane protein
עודכן לאחרונה 18 אפר 2023
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ה OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their colour. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Normal function
ה OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their colour. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Although the exact function of the P protein is unknown, it is essential for normal pigmentation and is likely involved in the production of melanin. Within melanocytes, the P protein may transport molecules into and out of structures called melanosomes (where melanin is produced). Researchers believe that this protein may also help regulate the relative acidity (pH) of melanosomes. Tight control of pH is necessary for most biological processes.
Conditions referring to this gene or chromosome
Other names
BOCA
Melanocyte-specific transporter protein
oculocutaneous albinism II
oculocutaneous albinism II (pink-eye dilution homolog, mouse)
P gene
P_HUMAN
PED
Pink-eyed dilution protein homolog
Related patient information and medicines
Patient information leaflet
לבקנות
Albinism is a rare inherited (genetic) condition which reduces the amount of of melanin pigment in the skin, hair and/or eyes. Oculocutaneous albinism (OCA) involves the eyes, hair and skin. ... OCA2 OCA2, תוצאות from a genetic defect in a different protein that helps the tyrosinase enzyme to function. People with OCA2 make a tiny amount of.
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קטרקט
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הפרעות אגירת גליקוגן
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בדיקות גנטיות
בדיקות גנטיות is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. They are all designed to identify a particular gene that may cause a genetic disorder. We all have 46 chromosomes in our cells. Chromosomes are made from.
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ניוון שרירים
What causes muscular dystrophy. The cause is an abnormal or 'faulty' gene. Genes are made from a biological material called DNA. Genes are the 'control centre' of each cell in the body, including muscle cells. The genes control the chemicals (proteins) that the cell makes. Some genes control the proteins needed for muscle fibres to work properly..
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קריאה נוספת והפניות
- OCA2 melanosomal transmembrane protein; MedlinePlus, National Library of Medicine.
- Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. J Med Genet. 2003 Aug;40(8):568-74. doi: 10.1136/jmg.40.8.568.
- Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics. 2005 Jan;85(1):85-91. doi: 10.1016/j.ygeno.2004.10.010.
- Brilliant MH. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001 Apr;14(2):86-93. doi: 10.1034/j.1600-0749.2001.140203.x.
- Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet. 2007 Feb;80(2):241-52. doi: 10.1086/510885. Epub 2006 Dec 20.
- Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Koiffmann CP. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am J Med Genet A. 2003 Jun 1;119A(2):180-3. doi: 10.1002/ajmg.a.20105.
- Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat. 2000;15(2):166-72. doi: 10.1002/(SICI)1098-1004(200002)15:23.0.CO;2-Z.
- Lewis RA. Oculocutaneous Albinism Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2003 Jul 17 [updated 2012 Aug 16]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1232/
- Oetting WS, Garrett SS, Brott M, King RA. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat. 2005 Mar;25(3):323. doi: 10.1002/humu.9318.
- Saitoh S, Oiso N, Wada T, Narazaki O, Fukai K. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J Med Genet. 2000 May;37(5):392-4. doi: 10.1136/jmg.37.5.392. No abstract available.
- Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet. 1997 Jul 11;71(1):57-62. doi: 10.1002/(sici)1096-8628(19970711)71:13.0.co;2-u.
- Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. J Invest Dermatol. 2003 May;120(5):781-3. doi: 10.1046/j.1523-1747.2003.12127.x.
- Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002 Jun;15(3):217-24. doi: 10.1034/j.1600-0749.2002.02007.x.
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