PCDHA1 Chromosome 5
Protocadherin alpha 1
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What This Gene Does
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]
Gene Info
Gene Group
Clustered protocadherins
Locus Type
complex locus constituent
Location
5q31.3
Ensembl
ENSG00000204970
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148870571 | Health Risk | Conflicting classifications of pathogenicity | — |