Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03-12-2020
Symbol RP16
Location 4p12
Name retinitis pigmentosa 16
Corresponding gene CNGA1
related resource Retinal Information Network
Other symbol(s) ARRP5, RP49
Main clinical features characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
Genetic determination autosomal recessive
Function/system disorder eye
Type disease
Gene product
Name cGMP channel (CNGA1) rod phosphoreceptor, alpha subunit (CNGA1)
Remark(s)