PKP4 Chromosome 2
Plakophilin 4
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What This Gene Does
Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
Gene Info
Gene Group
"Armadillo repeat containing|p120 catenin family"
Locus Type
gene with protein product
Location
2q24.1
Ensembl
ENSG00000144283
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148782148 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS878926127 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder, Autism spectrum disorder |