Retinal homeobox protein Rx
| RAX | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 18: 59.27 – 59.27 Mb | Chr 18: 66.06 – 66.07 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
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.[5] The RAX gene is located on chromosome 18 in humans, mice, and rats.[6]
Function
This gene encodes a
Towards the end of late gastrulation a single eye field has formed and splits into bilateral fields via action by the signaling molecule, sonic hedgehog (Shh) secreted from the forebrain. Rax and Six-3 (also a transcription factor) maintain the forebrain's ability to secrete Shh by inhibiting activity of the signaling molecule Wnt.[7]
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,[8] the Rax gene is known to contribute to the development of the retina, hypothalamus, pineal gland and pituitary gland.[9]
Clinical significance
Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[5]
Mutations to the Rax gene cause malformation of the retinal field, including anophthalmia and microphthalmia.[10]
Individuals who have a mutation in the RAX gene fail to develop ocular structures, referred to as anophthalmia.[7] RAX mutant individuals can also have microphthalmia, where one or both of the eyes is smaller than normal.[6]
Animal studies
Rax genes are conserved among vertebrates. RAX knockout mice have no eyes and abnormal forebrain formation. In the frog
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000134438 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024518 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: Retina and anterior neural fold homeobox".
- ^ S2CID 20066919.
- ^ ISBN 978-1-4557-2794-0.
- PMID 9096350.
- S2CID 4284692.
- PMID 14662654.
- PMID 25224223.
- ^ S2CID 1798545.
- PMID 12947416.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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