Retinal homeobox protein Rx

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Retina and anterior neural fold homeobox
Identifiers
Symbols RAX ; MCOP3; RX
External IDs OMIM601881 HomoloGene8383 GeneCards: RAX Gene
Orthologs
Species Human Mouse
Entrez 30062 19434
Ensembl ENSG00000134438 ENSMUSG00000024518
UniProt Q9Y2V3 O35602
RefSeq (mRNA) NM_013435 NM_013833
RefSeq (protein) NP_038463 NP_038861
Location (UCSC) Chr 18:
56.93 – 56.94 Mb
Chr 18:
65.93 – 65.94 Mb
PubMed search [1] [2]

Retinal homeobox protein Rx also known as retina and anterior neural fold homeobox is a protein that in humans is encoded by the RAX gene.[1]

Function[edit]

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation.[1]

Rax (Retina and Anterior Neural Fold Homeobox) is a gene in the OAR (Otx, Arx,& Rax) subgroup of the paired-like homeodomain family of transcription factors. Discovered in 1997,[2] the Rax gene is known to contribute to the development of the retina, hypothalamus, pineal gland and pituitary gland.[3]

Clinical significance[edit]

Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[1]

Mutations to the Rax gene cause malformation of the retinal field, including anophthalmia and micropthalmai.[4]

References[edit]

  1. ^ a b c "Entrez Gene: Retina and anterior neural fold homeobox". 
  2. ^ Furukawa T, Kozak CA, Cepko CL (April 1997). "rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina". Proc. Natl. Acad. Sci. U.S.A. 94 (7): 3088–93. doi:10.1073/pnas.94.7.3088. PMC 20326. PMID 9096350. 
  3. ^ Mathers PH, Grinberg A, Mahon KA, Jamrich M (June 1997). "The Rx homeobox gene is essential for vertebrate eye development". Nature 387 (6633): 603–7. doi:10.1038/42475. PMID 9177348. 
  4. ^ Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH (February 2004). "Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea". Hum. Mol. Genet. 13 (3): 315–22. doi:10.1093/hmg/ddh025. PMID 14662654. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.