Abelson Helper Integration Site 1

Alternative Names

  • AHI1
  • Jouberin

Associated Diseases

Joubert Syndrome 3
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OMIM Number

608894

NCBI Gene ID

54806

Uniprot ID

Q8N157

Length

214,209 bases

No. of Exons

36

No. of isoforms

3

Protein Name

Jouberin

Molecular Mass

137115 Da

Amino Acid Count

1196

Genomic Location

chr6:135,283,532-135,497,740

Gene Map Locus
6q23.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001134831.2:c.1051C>TUnited Arab EmiratesNC_000006.12:g.135457594G>APathogenicPathogenicJoubert Syndrome 3NG_008643.2:g.45172C>T; NM_001134831.2:c.1051C>T; NP_001128303.1:p.Arg351Ter1214343482010
NM_001134831.2:c.1328T>ASaudi ArabiaNC_000006.12:g.135455750A>TLikely Pathogenic, PathogenicLikely PathogenicJoubert Syndrome 3NG_008643.2:g.47016T>A; NM_001134831.2:c.1328T>A; NP_001128303.1:p.Val443Asp1214343502012
NM_001134831.2:c.1922T>ASyria; United Arab Emi...NC_000006.12:g.135438489A>TLikely PathogenicJoubert Syndrome 3NG_008643.2:g.64277T>A; NM_001134831.2:c.1922T>A; NP_001128303.1:p.Ile641Asn
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