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peripherin gene or retinal degeneration slow (rds)
Pathology:
- defects in the peripherin gene (RDS) cause various human diseases including:
a) autosomal dominant retinitis pigmentosa
b) autosomal dominant retinitis punctata albescens
c) butterfly-shaped pigment dystrophy
- in mice it causes retinopathy known as 'retinal degeneration slow' (rds)
Related
peripherin-2; retinal peripherin; retinal degeneration slow protein; tetraspanin-22; Tspan-22 (PRPH2, PRPH, RDS, TSPAN22)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: peripherin-2
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
References
PROSITE :accession PS00930