| Tag | Content |
|---|---|
| Uniprot ID | Q9Y2V3; Q86V11; |
| Entrez ID | 30062 |
| Genbank protein ID | AAH51901.1; BAJ83973.1; AAD23438.1; |
| Genbank nucleotide ID | NM_013435.2 |
| Ensembl protein ID | ENSP00000334813; ENSP00000256852; |
| Ensembl nucleotide ID | ENSG00000134438 |
| Gene name | Retinal homeobox protein Rx |
| Gene symbol | RAX |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter. |
| Sequence | MHLPGCAPAM ADGSFSLAGH LLRSPGGSTS RLHSIEAILG FTKDDGILGT FPAERGARGA 60 KERDRRLGAR PACPKAPEEG SEPSPPPAPA PAPEYEAPRP YCPKEPGEAR PSPGLPVGPA 120 TGEAKLSEEE QPKKKHRRNR TTFTTYQLHE LERAFEKSHY PDVYSREELA GKVNLPEVRV 180 QVWFQNRRAK WRRQEKLEVS SMKLQDSPLL SFSRSPPSAT LSPLGAGPGS GGGPAGGALP 240 LESWLGPPLP GGGATALQSL PGFGPPAQSL PASYTPPPPP PPFLNSPPLG PGLQPLAPPP 300 PSYPCGPGFG DKFPLDEADP RNSSIAALRL KAKEHIQAIG KPWQAL 346 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
