DefinitionThis section has been translated automatically.
Occurrence/EpidemiologyThis section has been translated automatically.
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Underlying mutations in the P gene (OCA2 gene). > 150 mutations are now known. The gene codes for the protein that plays a key role in melanin biosynthesis as a transporter protein for melanosomal proteins such as TYR and TYRP1. The protein maintains the acidic pH in melanosomes.
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At birth white hair, white skin; with increasing age slight pigmentation (hair becomes blond or reddish) Often numerous ephelids, possibly melanocytic naevi. In advanced age increased rate of UV-induced malignant epithelial tumours(basal cell carcinoma, spinocellular carcinoma). Grey-blue to light brown translucent iris, ocular fundus depigmented. Moderate nystagmus and photophobia, slight visual impairment. In patients of African descent, large melanocytic nevi and lentigines are frequently found in UV-exposed skin.
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- Baxter LL, Pavan WJ (2002) The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Mech Dev 116: 209-212
- Kamaraj B et al(2014) Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int doi: 10.1155/2014/905472.
- King RA et al (2003) Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet 113: 502-513
- Kubasch A et al (2017) Oculocutaneous and ocular albinism. Dermatologist 68: 867-875
- Nakamura E et al (2002) A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). J Dermatol Sci 28: 102-105
- Oetting WS et al (2003) Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 16: 307-311
- Okulicz JF et al (2003) Oculocutaneous albinism. J Eur Acad Dermatol Venereol 17: 251-256
- Rundshagen U et al (2003) Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 Hum mutation 23: 106-110
- Terenziani M et al (2003) Amelanotic melanoma in a child with oculocutaneous albinism. Med Pediatr Oncol 41: 179-180
Incoming links (7)Albinism ii; Albinism, oculocutaneous, brown; Albinism, oculocutaneous, yellow mutant; Albinism totalis; Hermansky-pudlak syndrome; Mc1r; Prader-willi syndrome;
Outgoing links (10)Albinism, oculocutaneous, brown; Albinism oculocutaneous tyrosinase-negative; Albinism (overview); Basal cell carcinoma (overview); Ephelids; Lentigo solaris; Melanosomes; Nevus melanocytic (overview); Prader-willi syndrome; Squamous cell carcinoma of the skin;
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.