TBC1D1 Chromosome 4
TBC1 domain family member 1
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What This Gene Does
TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
Associated Conditions (2)
Inborn genetic diseases
TBC1D1-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151143743 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201858985 | Health Risk | Conflicting classifications of pathogenicity | TBC1D1-related disorder, Inborn genetic diseases, TBC1D1-related disorder |