PCDH1
Description
The PCDH1 (protocadherin 1) is a protein-coding gene located on chromosome 5.
PCDH1 encodes a membrane protein that belongs to the protocadherin family within the cadherin superfamily. This protein is found at cell-cell boundaries and is involved in neural cell adhesion, suggesting a possible role in neuronal development. It has an extracellular region with 7 cadherin-like domains, a transmembrane region, and a C-terminal cytoplasmic region. Cells expressing PCDH1 exhibit cell aggregation activity. Alternative splicing occurs in this gene.
PCDH1 is also known as PC42, PCDH42.
Associated Diseases
- ringed hair disease
- hypotrichosis simplex
- uncombable hair syndrome
- pili gemini
- pili bifurcati
- alopecia, androgenetic, 1
- hypertrichosis lanuginosa congenita
- Ambras type hypertrichosis universalis congenita
- isolated anterior cervical hypertrichosis
- wooly hair, autosomal recessive 3
- hypotrichosis 4
