DISEASES

Disease-gene associations mined from literature

Literature associating RP1 and retinitis pigmentosa

RP1 [ENSP00000220676]

Retinitis pigmentosa 1 (autosomal dominant); Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity); Doublecortin superfamily

Synonyms:  RP1p,  hRP1,  A0FDN2,  P56715,  RP1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM