BLCAP
Description
The BLCAP (BLCAP apoptosis inducing factor) is a protein-coding gene located on chromosome 20.
BLCAP is a protein encoded by the BLCAP gene in humans. It was identified in bladder transitional cell carcinomas and appears to be downregulated during bladder cancer progression. While initially no homology to other human genes was found, orthologs have been identified in mouse, rat, and zebrafish. Although the protein's exact function remains unknown, it is believed to be involved in tumor suppression by decreasing cell growth through apoptosis. It is widely expressed, with particularly high levels in the brain and B lymphocytes. Multiple transcript variants are generated through alternative promoters and splicing, further increased by RNA editing events. BLCAP is predicted to be a globular protein with two transmembrane domains.
BLCAP may regulate cell proliferation and coordinate apoptosis and cell cycle progression through a mechanism independent of p53/TP53 and NF-kappa-B.
BLCAP is also known as BC10.
Associated Diseases
- Brugada syndrome
- familial atrial fibrillation
- dilated cardiomyopathy 1L
- familial sick sinus syndrome
- diabetes mellitus, permanent neonatal 4
- arrhythmogenic right ventricular dysplasia 10
- long QT syndrome 9
- diabetes mellitus, transient neonatal, 3
- sick sinus syndrome 1
- sinoatrial node dysfunction and deafness
- long QT syndrome 5
- Brugada syndrome 3
