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Official Full Name
peripherin 2
Organism
Mus musculus
GeneID
19133
Background
Enables protein homodimerization activity. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; photoreceptor cell outer segment organization; and protein complex oligomerization. Located in photoreceptor outer segment. Is expressed in eye; head; retina; and retina outer nuclear layer. Used to study partial central choroid dystrophy; patterned macular dystrophy 1; and retinitis pigmentosa 7. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2). [provided by Alliance of Genome Resources, Feb 2025]
Synonyms
Prph2; RP7; Rd2; Rds; rds; AVMD; PRPH; Rd-2; AOFMD; Nmf193; Tspan22;

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