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Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
Protocadherin alpha-1 is a protein that in humans is encoded by the PCDHA1 gene.[5][6]
PCDHA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | PCDHA1, PCDH-ALPHA1, Protocadherin alpha 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606307; MGI: 2150982; HomoloGene: 75093; GeneCards: PCDHA1; OMA:PCDHA1 - 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 two 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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