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
Orthologs
SpeciesHumanMouse
Entrez

170302

11878

Ensembl

ENSG00000004848

ENSMUSG00000035277

UniProt

Q96QS3

O35085

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

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

Function

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

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

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000004848 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035277 - Ensembl, 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. 1 2 3 "Entrez Gene: ARX aristaless related homeobox".

Further reading

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


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