Symbol: Name: ID: |
RP2 retinitis pigmentosa 2 (X-linked recessive) GFS:236 |
Gene name: | RP2 |
Chromosome: | Xp11.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | TBCCD2, NME10 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1277953 | Rat Genome Database ID: | RGD:1565124 |
HGNC ID: | HGNC:10274 | RefSeq IDs: | NM_006915 |
Entrez Gene ID: | 6102 | Ensembl Gene ID: | ENSG00000102218 |
VEGA IDs: | OTTHUMG00000021430 | UniProt ID: | O75695 |
UCSC ID: | uc004dgw.3 | OMIM ID: | 300757 |
Pubmed: | PMID6325945 PMID 9697692 PMID 19852809 | ||
CCDS IDs: | CCDSCCDS14270.1 |
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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for RP2 gene
Catalog | Product Name | Application | Company |
GFS:E00236 | retinitis pigmentosa 2 (X-linked recessive); ELISA kit | ELISA | n/a |
GFS:A00236 | retinitis pigmentosa 2 (X-linked recessive); Anti | ANTIBODIES | n/a |
GFS:P00236 | retinitis pigmentosa 2 (X-linked recessive); Protien | Protien | n/a |