Aliases for PCDHAC1 Gene
External Ids for PCDHAC1 Gene
Previous GeneCards Identifiers for PCDHAC1 Gene
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for PCDHAC1 Gene
PCDHAC1 (Protocadherin Alpha Subfamily C, 1) is a Protein Coding gene. Diseases associated with PCDHAC1 include Tibial Muscular Dystrophy and Hirschsprung Disease 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHAC2.
UniProtKB/Swiss-Prot Summary for PCDHAC1 Gene
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.