| Type | Description |
|---|---|
| Definition | retina and anterior neural fold homeobox |
| Date | Results | Publications |
|---|---|---|
| 2019-03-23 10:23:00 | combination of WES and homozygosity mapping identified a novel homozygous RAX mutation in a consanguineous family segregating with rarely reported asymmetrical coloboma. Clinical findings and genetic results support that RAX mutation is responsible for eye malformations. | 28831107 |
| 2012-11-17 11:11:00 | The three consanguineous Egyptian anophthalmia patients carry a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX. | 22736936 |
| 2012-09-15 10:19:00 | Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation. | 22558175 |
| 2010-06-30 22:06:00 | Observational study of gene-disease association. (HuGE Navigator) | 20494911 |
| 2010-01-21 00:00:00 | Mutations associated with recessive anophthalmos and sclerocornea. | 14662654 |
| Type | IDs |
|---|---|
| Synonymous | MCOP3, RX |
| Gene |
UniProtKB-ID:
RX_HUMAN
UniprotKB:
Q9Y2V3
UniParc:
UPI000013CF2F,
UPI0000192746
EMBL:
BC051901,
AB593018,
AC067859,
AF115392
Ensembl:
ENSG00000134438
KO:
hsa:30062
|
| Nucleutide sequences |
EMBL-CDS:
AAH51901.1,
BAJ83973.1,
AAD23438.1
Ensembl_TRS:
ENST00000334889,
ENST00000256852
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000334813,
ENSP00000256852
RefSeq:
NP_038463.2
|
| Others |
UniRef100:
UniRef100_Q9Y2V3
UniRef90:
UniRef90_Q9Y2V3
UniRef50:
UniRef50_Q9Y2V3
UniGene:
Hs.278957
CCDS:
CCDS11972.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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