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GENATLAS PHENOTYPE

last update : 03-12-2020

Symbol	ARRP20
Location	2p23.3
Name	retinitis pigmentosa autosomal recessive, 20
Corresponding gene	ZNF513
Other symbol(s)	RP58
Main clinical features	characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment in the early stages, the fundus was characterized by a gray granular appearance in areas of focal thinning of retinal pigment epithelium, exposing the choroid
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)

.C339R mutation interferes with retinal development and photoreceptor survival through disruption of the specific binding of ZNF513 to a subset of these genes (PMID: 20797688))