TBC1D20 Chromosome 20
TBC1 domain family member 20
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What This Gene Does
This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Associated Conditions (2)
Inborn genetic diseases
Warburg micro syndrome 4
Key Variants
RS141648576
Conflicting classifications of pathogenicity
Health Risk
RS1600328992
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587777157
Pathogenic
Warburg micro syndrome 4, Warburg micro syndrome 4
Health Risk
RS587777158
Pathogenic
Warburg micro syndrome 4, Warburg micro syndrome 4
Health Risk
RS587777159
Pathogenic
Warburg micro syndrome 4, Warburg micro syndrome 4
Health Risk
RS587777160
Pathogenic
Warburg micro syndrome 4, Warburg micro syndrome 4
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141648576 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1600328992 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587777157 | Health Risk | Pathogenic | Warburg micro syndrome 4, Warburg micro syndrome 4 |
| RS587777158 | Health Risk | Pathogenic | Warburg micro syndrome 4, Warburg micro syndrome 4 |
| RS587777159 | Health Risk | Pathogenic | Warburg micro syndrome 4, Warburg micro syndrome 4 |
| RS587777160 | Health Risk | Pathogenic | Warburg micro syndrome 4, Warburg micro syndrome 4 |