PKP1 gene

plakophilin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

From UniProt:

Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.

From NCBI Gene:

  • Ectodermal dysplasia skin fragility syndrome

From UniProt:

Ectodermal dysplasia-skin fragility syndrome (EDSFS): A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. [MIM:604536]

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1

Molecular Location: base pairs 201,283,452 to 201,332,993 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1