GIT1 Chromosome 17
GIT ArfGAP 1
Upload your DNA to see your personal genotypes for variants in GIT1.
What This Gene Does
Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"ArfGAPs|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000108262
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150427746 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |