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Gene Review:

RAX - retina and anterior neural fold homeobox

Homo sapiens

Synonyms: MCOP3, RX, Retina and anterior neural fold homeobox protein, Retinal homeobox protein Rx

Voronina, V.A. et al., Kimura, A. et al.

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Disease relevance of RAX

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea [1].

High impact information on RAX

We identified a single proband from this population who is a compound heterozygote for mutations in the RAX gene [1].
This individual carries a truncated allele (Q147X) and a missense mutation (R192Q), both within the DNA-binding homeodomain of the RAX protein, and we have characterized the biochemical properties of these mutations in vitro [1].
Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression [2].
RX is found in many retinal cell types including photoreceptor cells [2].

Analytical, diagnostic and therapeutic context of RAX

Binding assay and cell culture studies indicate that both PCE-1 and OTX elements and at least two different regulatory factors RX and CRX are necessary for high level, photoreceptor cell-restricted gene expression [2].

References

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Voronina, V.A., Kozhemyakina, E.A., O'Kernick, C.M., Kahn, N.D., Wenger, S.L., Linberg, J.V., Schneider, A.S., Mathers, P.H. Hum. Mol. Genet. (2004) [Pubmed]
Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression. Kimura, A., Singh, D., Wawrousek, E.F., Kikuchi, M., Nakamura, M., Shinohara, T. J. Biol. Chem. (2000) [Pubmed]

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