TUBG1 Chromosome 17
Tubulin gamma 1
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What This Gene Does
This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]
Gene Info
Gene Group
Tubulin gamma family
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000131462
Associated Conditions (3)
Lissencephaly
Complex cortical dysplasia with other brain malformations 4
Inborn genetic diseases
Key Variants
RS1555631383
Conflicting classifications of pathogenicity
Lissencephaly, Lissencephaly
Health Risk
RS1555631467
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
RS200565766
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
RS375730019
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1803693
Likely pathogenic
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
RS2143456307
Likely pathogenic
Health Risk
RS2510733383
Likely pathogenic
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
RS2510734593
Likely pathogenic
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
RS2510735739
Likely pathogenic
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
RS398123046
Likely pathogenic
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
RS770355511
Likely pathogenic
Lissencephaly, Lissencephaly
Health Risk
RS398123045
Pathogenic
Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555631383 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly, Lissencephaly |
| RS1555631467 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS200565766 | Health Risk | Conflicting classifications of pathogenicity | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS375730019 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1803693 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS2143456307 | Health Risk | Likely pathogenic | — |
| RS2510733383 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS2510734593 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS2510735739 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS398123046 | Health Risk | Likely pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS770355511 | Health Risk | Likely pathogenic | Lissencephaly, Lissencephaly |
| RS398123045 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS398123047 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |
| RS1057518249 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4 |