RAX2

retina and anterior neural fold homeobox 2

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000173976
UniProt:: Q96IS3
OMIM:: 610362
Synonyms:: ARMD6, CORD11, MGC15631, RAXL1

Phenotypes

Human ciliopathy phenotype:: cone-rod dystrophy 11; retinitis pigmentosa 95

Ciliopathy associations

Cone-Rod Dystrophy
Retinal Dystrophy/Degeneration

References: PMID:25789692, PMID:30377383, PMID:15028672

Subcellular localization

nucleus

Functional category

Ciliary assembly/disassembly

Function

Mutations in the RAX2 gene cause Cone-Rod Dystrophy (PMID: 25789692).

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