BCLAF1 Chromosome 6
BCL2 associated transcription factor 1
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What This Gene Does
This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
WTAP complex
Locus Type
gene with protein product
Location
6q23.3
Ensembl
ENSG00000029363
Associated Conditions (1)
Pulmonary artery atresia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760051929 | Health Risk | Pathogenic | Pulmonary artery atresia, Pulmonary artery atresia |
| RS779302959 | Health Risk | Pathogenic | Pulmonary artery atresia, Pulmonary artery atresia |