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Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
Protocadherin alpha-C2 is a protein that in humans is encoded by the PCDHAC2 gene.[5][6]
PCDHAC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | PCDHAC2, PCDH-ALPHA-C2, protocadherin alpha subfamily C, 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606321; MGI: 1891443; HomoloGene: 49562; GeneCards: PCDHAC2; OMA:PCDHAC2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[6]
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