GIT1 GIT ArfGAP 1
Gene ID: 28964, updated on 28-Oct-2024Gene type: protein coding
Also known as: p95-APP1
- See all available tests in GTR for this gene
- Go to complete Gene record for GIT1
- Go to Variation Viewer for GIT1 variants
Summary
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, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
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Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available |
Genomic context
- Location:
- 17q11.2
- Sequence:
- Chromosome: 17; NC_000017.11 (29573475..29589648, complement)
- Total number of exons:
- 21
Variation
Resource | Links for this gene |
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ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GIT1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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