DOCK1 Chromosome 10
Dedicator of cytokinesis 1
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What This Gene Does
This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"Armadillo like helical domain containing|DOCK family Rho GEFs"
Locus Type
gene with protein product
Location
10q26.2
Ensembl
ENSG00000150760
Associated Conditions (2)
Temporomandibular joint disorder
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1466192762 | Health Risk | Conflicting classifications of pathogenicity | Temporomandibular joint disorder, Temporomandibular joint disorder |
| RS767858333 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |