Aristaless related homeobox

Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.[5]

ARX
Identifiers
AliasesARX, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, aristaless related homeobox
External IDsOMIM: 300382; MGI: 1097716; HomoloGene: 68998; GeneCards: ARX; OMA:ARX - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_139058

NM_007492
NM_001305940

RefSeq (protein)

NP_620689

NP_001292869
NP_031518

Location (UCSC)Chr X: 25 – 25.02 MbChr X: 92.33 – 92.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development.[5]

Clinical significance

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Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice).[5]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000004848Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035277Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: ARX aristaless related homeobox".

Further reading

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