CRX
entrez
1406
canonical
uniprot
O43186
canonical
ensembl
ENSG00000105392
resolver
ensp
ENSP00000221996
resolver
enst
ENST00000221996
resolver
genesymbol
CRX
resolver
genesymbol_syn
CORD2
resolver
hgnc
HGNC:2383
resolver
uniprot
Q0QD45
resolver
uniprot_entry
CRX_HUMAN
resolver
uniprot_sec
Q0QD45
resolver
amino_acid_sequence
MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAKTQYPDVYAREEVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISDSYSPPLPGPSGSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGSPSSYFSGLDPYLSPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTYNPMDPLDYKDQSAWKFQIL
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 7 (LCA7) [MIM:613829]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:10887186, ECO:0000269|PubMed:20513135, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:9792858, ECO:0000269|PubMed:9931337}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cone-rod dystrophy 2 (CORD2) [MIM:120970]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:10887186, ECO:0000269|PubMed:9390563, ECO:0000269|PubMed:9427255, ECO:0000269|PubMed:9792858}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa (RP) [MIM:268000]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Retinitis pigmentosa can be inherited as an autosomal dominant, autosomal recessive or X-linked condition. {ECO:0000269|PubMed:11139241, ECO:0000269|PubMed:9427255, ECO:0000269|PubMed:9792858}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. {ECO:0000269|PubMed:10625658}.
uniprot
proteins
mass_dalton
32261
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10625658
uniprot
proteins
pubmed
10887186
uniprot
proteins
pubmed
11139241
uniprot
proteins
pubmed
15028672
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17286855
uniprot
proteins
pubmed
18682808
uniprot
proteins
pubmed
20513135
uniprot
proteins
pubmed
21602930
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
9390563
uniprot
proteins
pubmed
9427255
uniprot
proteins
pubmed
9792858
uniprot
proteins
pubmed
9931337
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins