Mutational Analysis of Oculocutaneous Albinism: A Compact Review

Table 1

Mutations detected for albinism associated genes.

Albinism	Gene	Chromosome location	Mutations
OCA1	TYR	11q14-q21	303
OCA2	OCA2	15q11.2-q12	154
OCA3	TYRP1	9p23	16
OCA4	SLC45A2	5p13.3	78
OCA5	ND	4q24	1
OCA6	SLC24A5	15q21.1	2
OCA7	C10ORF11	10q22.2-q22.3	1
OA1	GPR143	Xp22.3	114
LYST	CHS1	1q42.1-q42.2	53
HPS1	HPS1	10q23.1-q23.3	31
AP3B1	HPS2	5q14.1	20
HPS3	HPS3	3q24	7
HPS4	HPS4	22cen-q12.3	13
HPS5	HPS5	11p14	11
HPS6	HPS6	10q24.32	9
HPS7	DTNBP1	6p22.3	2
HPS8	BLOC1S3	19q13.32	2
HPS9	BLOC1S6	15q21.1	1

Source: human gene mutation database, 05 Dec, 2013; ND: not determined.