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LOC109610631 aristaless related homeobox polyalanine expansion region [ Homo sapiens (human) ]

Gene ID: 109610631, updated on 10-Oct-2023

Summary

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Gene symbol
LOC109610631
Gene description
aristaless related homeobox polyalanine expansion region
Gene type
biological region
Feature type(s)
misc_feature: repeat_instability_region
repeat_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This biological region is found within the coding region of the aristaless related homeobox (ARX) gene on the p arm of the X chromosome. There are four polyalanine coding tracks within the ARX gene, and expansions have been documented for two of these polyalanine tracts. The first polyalanine tract contains 16 consecutive alanines on the reference genome. Expansions of (GCG)n resulting in a total of 23 or 27 consecutive alanines are associated with intellectual disability disorders, but with variable clinical presentation. The larger expansion results in a more severe phenotype. The second polyalanine tract contains 12 consecutive alanines on the reference genome. Expansions resulting in tracts of 20 or 21 alanines have been observed, and are associated with disorders with variable clinical presentations. [provided by RefSeq, Jan 2017]
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Genomic context

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See LOC109610631 in Genome Data Viewer
Location:
Xp21.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (25013530..25013697)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (24597767..24597934)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (25031647..25031814)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene DNA polymerase alpha 1, catalytic subunit Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 3 Neighboring gene VISTA enhancer hs118 Neighboring gene VISTA enhancer hs119 Neighboring gene uncharacterized LOC124905263 Neighboring gene VISTA enhancer hs121 Neighboring gene VISTA enhancer hs122 Neighboring gene VISTA enhancer hs145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25021017-25021551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:25022180-25022754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:25022755-25023328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25038709-25039287 Neighboring gene PAFAH1B2 pseudogene 1 Neighboring gene aristaless related homeobox Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:25068048-25068635 Neighboring gene RNA, 7SL, cytoplasmic 91, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Expansion of the ARX spectrum. Wallerstein R, et al. Clin Neurol Neurosurg, 2008 Jun. PMID 18462864
  2. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Cossée M, et al. Am J Med Genet A, 2011 Jan. PMID 21204215
  3. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Kato M, et al. Am J Hum Genet, 2007 Aug. PMID 17668384, Free PMC Article
  4. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. Laperuta C, et al. BMC Med Genet, 2007 May 4. PMID 17480217, Free PMC Article
  5. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. Nasrallah IM, et al. J Cell Biol, 2004 Nov 8. PMID 15533998, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ARX polyalanine expansion region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052655.1 

    Range
    101..268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    25013530..25013697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    24597767..24597934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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