PCDHB15

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Description

The PCDHB15 (protocadherin beta 15) is a protein-coding gene located on chromosome 5.

PCDHB15, encoded by the PCDHB15 gene in humans, is part of the protocadherin beta gene cluster on chromosome five. This cluster has 16 genes and 3 pseudogenes, all encoding proteins with six extracellular cadherin domains and a unique cytoplasmic tail. These domains likely interact with each other to establish specific connections between cells. Unlike other protocadherin clusters, the PCDHB15 gene produces transcripts from a single large exon. The protein is a cell membrane protein and is thought to be crucial for neural cell connections, but its exact role is still being investigated.

PCDHB15 is also known as PCDH-BETA15.

Associated Diseases

• primary familial polycythemia due to EPO receptor mutation
• alpha thalassemia-intellectual disability syndrome type 1
• hemolytic anemia due to diphosphoglycerate mutase deficiency
• erythrocytosis, familial, 3
• erythrocytosis, familial, 6
• Heinz body anemia
• hemoglobin D disease
• delta-beta-thalassemia
• dominant beta-thalassemia
• hemoglobin C-beta-thalassemia syndrome
• erythrocytosis, familial, 4
• pyropoikilocytosis, hereditary
• hereditary spherocytosis type 3
• southeast Asian ovalocytosis