ZMYND8 Chromosome 20
Zinc finger MYND-type containing 8
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What This Gene Does
The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing"
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000101040
Associated Conditions (1)
Neurodevelopmental disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777043855 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776813452 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |