Preferred Label : Protocadherin-alpha gene cluster;
Symbol : PCDHA@;
CISMeF acronym : PCDHA; PCDHA@;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Pcdh-alpha gene cluster; PCDHA;
Description : The PCDHA gene cluster encodes a family of cadherin-like cell surface proteins that
are expressed in neurons and are present at synaptic junctions. Multiple PCDHA mRNAs
are produced by splicing a single variable exon to 3 constant region exons. Each variable
exon is preceded by a promoter and encodes 6 cadherin-like ectodomains, a transmembrane
domain, and a portion of the cytoplasmic domain. The constant region exons encode
the remainder of the cytoplasmic domain (Ribich et al., 2006).;
Prefixed ID : 604966;
Origin ID : 604966;
UMLS CUI : C1418311;
Semantic type(s)
- UMLS correspondences (same concept)
