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Retina & anterior neural fold homeobox-like protein 1; Q50-type retinal homeobox protein (RAXL1, RAX2, QRX)
Function:
- role in modulating expression of photoreceptor specific genes
- binds to Ret-1 & Bat-1 element within the rhodopsin promoter
- interacts with CRX
Structure:
- contains 1 homeobox DNA-binding domain that transactivates Ret-1 element in the presence of CRX & NRL
Compartment: nucleus
Pathology:
- defects in RAXL1 are associated with: age-related macular degeneration type 6 (ARMD6) cone-rod dystrophy type 11 (CORD11)
General
homeobox protein
Properties
SIZE: MW = 20 kD
entity length = 184 aa
COMPARTMENT: cell nucleus
MOTIF: homeodomain
SITE: 27-86
proline-rich region
SITE: 98-140
MOTIF: proline residue (SEVERAL)
Database Correlations
OMIM 603075
UniProt Q96IS3
Pfam PF00046
References
UniProt :accession Q96IS3