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FLASH GENE

Symbol

CHM

contributors: mct/shn - updated : 29-06-2010

HGNC name	choroideremia (Rab escort protein 1)
HGNC id	1940

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CHM

related resource

REP1Mutations Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice disrupted totally for chm/rep-1 gene die in utero and heterozygous mice display photoreceptor cell degeneration (van den Hurk et al, 1997)
	conditional knockout mouse models for Chm gene lead to progressive degeneration of the photoreceptors, patchy depigmentation of the RPE, and Rab prenylation defects (Tolmachova et al, 2006)
	Lack of REP-1 protein expression in hfRPE cells leads to reduced degradation of photoreceptor outer segments (Gordiyenko et al, 2010)