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Protocadherin gamma subfamily B, 1 (PCDHGB1)
- Target
- PCDHGB1
- Molecular classification
- Cell adhesion molecule, Cadherin superfamily, Clustered protocadherin, Transmembrane protein, Other (not G protein-coupled receptor, ion channel, enzyme, transporter, or transcription factor)
01
Overview
Protocadherin gamma subfamily B, 1 is a neural cell adhesion protein, part of the clustered protocadherin family within the cadherin superfamily. It is organized in a gene cluster on chromosome 5, alongside other protocadherins. Each gene in the gamma cluster encodes a protein with six extracellular cadherin ectodomains and a transmembrane region, plus a cytoplasmic constant domain. These proteins mediate specific calcium-dependent homophilic cell-cell adhesion, critically involved in the formation and function of neuronal networks. The diversity of protocadherin isoforms, including PCDHGB1, is thought to provide complex molecular identities that enable neurons to self-recognize and properly wire in the brain. Mutations in PCDHGB1 have been linked to certain neurodevelopmental disorders, but it is not currently considered a direct therapeutic or druggable target.
- Other names
- Protocadherin gamma-B1PCDHGB1PCDH-gamma-B1PCDH-GAMMA-B1protocadherin gamma subfamily B, 1, isoform 2protocadherin gamma-B1
02
Mechanism of action
Null (No known drugs or therapies with defined mechanism of action targeting this molecule)
03
Biological functions
Calcium ion bindingCell adhesion (neural-specific)Establishment and maintenance of neuronal connectionsPossibly involved in neural development and signaling
04
Disease associations
Neurodevelopmental disorder with poor growth and skeletal anomaliesMicrocephalyPotential roles in neural wiring disorders and possibly cancer (context/isoform dependent; direct evidence for PCDHGB1 is limited)
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