PCDHB5

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Description

The PCDHB5 (protocadherin beta 5) is a protein-coding gene located on chromosome 5.

Protocadherin beta-5 is a protein encoded by the PCDHB5 gene in humans. This gene belongs to the protocadherin beta gene cluster, one of three related clusters on chromosome five. The cluster has 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail. These domains interact homophilically to determine cell-cell connections. Unlike the alpha and gamma clusters, these genes have only one large exon, not sharing common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown, but they likely play a crucial role in establishing and maintaining specific neural connections.

PCDHB5 is also known as PCDH-BETA5.

Associated Diseases

• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• hemoglobin D disease
• alpha thalassemia-intellectual disability syndrome type 1
• delta-beta-thalassemia
• hemoglobin E-beta-thalassemia syndrome
• dominant beta-thalassemia
• hemoglobin C-beta-thalassemia syndrome
• alpha-thalassemia-myelodysplastic syndrome
• Heinz body anemia
• hemoglobin E disease
• hemoglobin H disease
• monosomy 7 myelodysplasia and leukemia syndrome 1
• hemoglobin M disease