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)

More general terms

• homeobox protein

Database

• OMIM: https://mirror.omim.org/entry/603075
• UniProt: http://www.uniprot.org/uniprot/Q96IS3.html