PCDHB4
Description
The PCDHB4 (protocadherin beta 4) is a protein-coding gene located on chromosome 5.
Protocadherin beta-4 is a protein encoded by the PCDHB4 gene in humans. It belongs to the protocadherin beta gene cluster, located on chromosome 5. This cluster contains 16 genes and 3 pseudogenes, all encoding proteins with six extracellular cadherin domains and a unique cytoplasmic tail. The extracellular domains interact with each other to create specific cell-cell connections. Unlike other protocadherin clusters, the beta cluster genes have only one large exon, without shared 3' exons. These neural cadherin-like proteins are embedded in cell membranes and are crucial for the formation and function of specific neuronal connections, although their precise roles remain unknown.
PCDHB4 is also known as PCDH-BETA4.
Associated Diseases
- Brugada syndrome
- progressive familial heart block, type 1A
- familial atrial fibrillation
- sinoatrial node dysfunction and deafness
- familial sick sinus syndrome
- dilated cardiomyopathy 1E
- Brugada syndrome 1
- hypertrophic cardiomyopathy 6
- long QT syndrome 14
- long QT syndrome 13
- sick sinus syndrome 1
- long QT syndrome 10
- Brugada syndrome 3
