THAP11 Chromosome 16
THAP domain containing 11
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What This Gene Does
The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
THAP domain family
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000168286
Associated Conditions (5)
Methylmalonic acidemia with homocystinuria
type cblX
Disorders of Intracellular Cobalamin Metabolism
Methylmalonic aciduria and homocystinuria
cb1L type
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139697290 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS955056927 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS188675529 | Health Risk | Likely pathogenic | Methylmalonic acidemia with homocystinuria, type cblX, Disorders of Intracellular Cobalamin Metabolism |