AHI1

Abelson helper integration site 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Joubert syndrome 3

From UniProt:

Joubert syndrome 3 (JBTS3): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. [MIM:608629]

Cytogenetic Location: 6q23.3, which is the long (q) arm of chromosome 6 at position 23.3

Molecular Location: base pairs 135,283,972 to 135,497,775 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q23.3, which is the long (q) arm of chromosome 6 at position 23.3
  • AHI-1
  • dJ71N10.1
  • JBTS3
  • ORF1