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retinal homeobox protein Rx; retina & anterior neural fold homeobox protein (RAX, RX)
Function:
- role in eye formation by regulating the initial specification of retinal cells &/or their subsequent proliferation
- binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter
Structure:
- belongs to the paired homeobox family, Bicoid subfamily
- contains 1 homeobox DNA-binding domain
Compartment: nucleus
Expression:
- expressed in the developing eye
- weakly expressed in the adult retina
Pathology:
- defects in RAX are the cause of microphthalmia isolated type 3
General
homeobox protein
Properties
SIZE: entity length = 346 aa
MW = 37 kD
COMPARTMENT: cell nucleus
MOTIF: Octapeptide {33-40}
homeodomain
SITE: 136-195
proline-rich region
SITE: 276-282
MOTIF: proline residue (SEVERAL)
OAR domain
SITE: 323-336
MOTIF: nuclear translocation signal {329-333}
Database Correlations
OMIM correlations
MORBIDMAP 601881
UniProt Q9Y2V3
PFAM correlations
Entrez Gene 30062
Kegg hsa:30062
References
- UniProt :accession Q9Y2V3
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RAX