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AHI1 Abelson helper integration site 1

Gene ID: 54806, updated on 25-Jan-2022
Gene type: protein coding
Also known as: ORF1; AHI-1; JBTS3; dJ71N10.1

Summary

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Joubert syndrome 3
MedGen: C1837713OMIM: 608629GeneReviews: Joubert Syndrome
See labs

Genomic context

Location:
6q23.3
Sequence:
Chromosome: 6; NC_000006.12 (135283532..135497771, complement)
Total number of exons:
35

Links

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