RAX
entrez
30062
canonical
uniprot
Q9Y2V3
canonical
ensembl
ENSG00000134438
resolver
ensp
ENSP00000334813
resolver
genesymbol
RAX
resolver
genesymbol_syn
RX
resolver
hgnc
HGNC:18662
resolver
uniprot
Q86V11
resolver
uniprot_entry
RX_HUMAN
resolver
uniprot_sec
Q86V11
resolver
amino_acid_sequence
MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPATGEAKLSEEEQPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSATLSPLGAGPGSGGGPAGGALPLESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPPPPFLNSPPLGPGLQPLAPPPPSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL
uniprot
proteins
disease_involvement
DISEASE: Microphthalmia, syndromic 16 (MCOPS16) [MIM:611038]: An autosomal recessive disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Some patients exhibit developmental delay and intellectual disability or autism. {ECO:0000269|PubMed:14662654, ECO:0000269|PubMed:24033328}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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.
uniprot
proteins
mass_dalton
36676
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10625658
uniprot
proteins
pubmed
14662654
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
21697133
uniprot
proteins
pubmed
24033328
uniprot
proteins
sequence_length
346
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins