RP2

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

Description

retinitis pigmentosa 2 (X-linked recessive)

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

X:p11.3 (46836940 - 46882358)

Ensembl ID

ENSG00000102218  (ver. 84.38)

Orthologs

Mouse Rp2: ENSMUSG00000060090

UniProt

O75695

neXtProt

NX_O75695

Human splice variants
Mouse splice variants