Genetic classification of oculocutaneous albinism

Type of albinism	MIM #	Gene	Locus	Encoding function	Comments
OCA1^*	606933	TYR	11q14-11q21	Tyrosinase, which catalyzes several steps in melanogenesis	OCA1A: No melanin OCA1B: Varying amounts of melanin are present
OCA1A	203100
OCA1B	606952
OCA2	203200	OCA2 (previously called P gene)	15q11.2-15q12	Melanosomal membrane protein involved in pH regulation	Common in sub-Saharan Africa due to 2.7 kb deletion Includes brown and rufous OCA
OCA3	203290	TYRP1	9p23	Stabilizes tyrosinase and regulates eumelanin production	Previously called red or rufous OCA Common in Africa
OCA4	696574	SLC45A2 (previously called MATP and AIM1)	5p13.2	Melanosomal transport protein involved in ion transport and osmolarity regulation	Minimal to near normal melanin Phenotype similar to OCA2 Common in Japan
OCA5	615312	Unknown	4q24	Unknown	Rare, described in a Pakistani family
OCA6	609802	SLC24A5	15q21.1	Melanosome membrane transport protein involved in sodium/calcium exchange	Rare, described in a Chinese family
OCA7	615179	LRMDA (formerly C10orf11)	10q22.2-10q22.3	Melanocyte differentiation	Rare, described in families on the Faroe Islands
OCA8	619165	DCT/TYRP2	13q32.1	Enzyme catalyst in melanogenesis	Rare, described in a French girl and a North African woman

OCA: oculocutaneous albinism.

* OCA1 includes previously described temperature-sensitive OCA, minimal pigment OCA, and yellow OCA.

Original figure modified for this publication. From: Summers CG. Albinism. In: Taylor and Hoyt's Pediatric Ophthalmology and Strabismus, 5th ed, Lambert SR, Lyons CJ (Eds), Elsevier, Atlanta 2017. Table used with the permission of Elsevier Inc. All rights reserved.

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Genetic classification of oculocutaneous albinism