LOC109504725 androgen receptor repeat instability region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC109504725
Gene description: androgen receptor repeat instability 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 5' region of the androgen receptor gene on the q arm of the X chromosome, and contains a CAG trinucleotide repeat. Expansions of this repeat result in an elongated polyglutamine tract in the encoded protein, and are known to be a cause of spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease). This is a highly polymorphic region, with up to 34 repeats in unaffected individuals, reduced penetrance with 36-37 repeats, while the disease phenotype can be observed with 37 or more repeats. Expanded alleles exhibit instability, with greater instability observed during male transmissions. In many cases, there is a direct correlation between CAG repeat number and severity of disease, and in inverse relationship with age of disease onset and repeat number. Exceptions to this have been noted, and CAG repeat number does not account for all of the observed phenotypic variation. [provided by RefSeq, Jan 2017]
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Genomic context

Location:: Xq12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (67545317..67545419)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (65975148..65975250)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (66765159..66765261)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

AR repeat instability region
SBMA repeat instability region
spinal and bulbar muscular atrophy repeat instability 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.