LOC108510657 Friedreich ataxia repeat instability region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108510657
Gene description: Friedreich ataxia 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 an intron of the frataxin (FXN) gene on the q arm of chromosome 9, and contains a GAA trinucleotide repeat. Expansions of this repeat are known to be a cause of Friedreich ataxia. This region is highly polymorphic, and differences in repeat number are observed amongst individuals in the population. Typical alleles tend to contain up to 30 GAA triplet repeats, while affected individuals have expanded regions of greater than 70 repeats, and can have more than 1000 GAA repeats. Studies show that these expansions can result in altered nucleosome positioning and epigenetic changes, resulting in decreased gene expression of FXN. It has been suggested that the expanded triplet sequence can adopt secondary structures such as triplex structures and R-loops that may affect transcriptional elongation. [provided by RefSeq, Jan 2017]
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Genomic context

Location:: 9q21.11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (69037276..69037304)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (81210822..81210861)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (71652192..71652220)

Chromosome 9 - NC_000009.12 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

What's a GeneRIF?

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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

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General gene information

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Other Names

FXN trinucleotide 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.