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AHI1

AHI1

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

What is the official name of the AHI1 gene?

The official name of this gene is “Abelson helper integration site 1.”

AHI1 is the gene's official symbol. The AHI1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the AHI1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 (AHI1_HUMAN)This link leads to a site outside Genetics Home Reference.:

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.

How are changes in the AHI1 gene related to health conditions?

Genetics Home Reference provides information about Joubert syndrome, which is associated with changes in the AHI1 gene.
UniProt (AHI1_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the AHI1 gene's known or predicted involvement in human disease.

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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the AHI1 gene.
  • Joubert syndrome 3
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the AHI1 gene and its association with health conditions.
OMIM
Number
Title

Where is the AHI1 gene located?

Cytogenetic Location: 6q23.3

Molecular Location on chromosome 6: base pairs 135,283,972 to 135,497,765

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The AHI1 gene is located on the long (q) arm of chromosome 6 at position 23.3.

The AHI1 gene is located on the long (q) arm of chromosome 6 at position 23.3.

More precisely, the AHI1 gene is located from base pair 135,283,972 to base pair 135,497,765 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about AHI1?

You and your healthcare professional may find the following resources about AHI1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the AHI1 gene or gene products?

  • AHI-1
  • dJ71N10.1
  • JBTS3
  • ORF1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding AHI1?

apraxia ; ataxia ; central nervous system ; gene ; hypoplasia ; hypotonia ; inherited ; isoforms ; neonatal ; nervous system ; plasma ; psychomotor ; renal ; renal disease ; sign ; syndrome ; transcript ; transmembrane

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: February 1, 2016