PCDHGC4
Function
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
Involvement in disease
Neurodevelopmental disorder with poor growth and skeletal anomalies
NEDGS
An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals present with progressive microcephaly, hypotonia, delayed walking, poor or absent speech, intellectual disability, and variable skeletal anomalies. Variable features include seizures, non-specific dysmorphic facial features, oculomotor apraxia, and non-specific brain imaging abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
Protocadherin gamma-C4, PCDH-gamma-C4, PCDHGC4