Variants
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DSC2 Gene

desmocollin 2

ALIAS SYMBOLS

  • CDHF2

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Description

The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Desmocollin-2 is a major component of specialized structures called desmosomes. These structures help hold neighboring cells together, which provides strength and stability to tissues. Desmosomes may also be involved in other critical cell functions, including chemical signaling pathways, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis).

CHROMOSOME

18


LOCATION

q12.1


LOCUS TYPE

gene with protein product

VARIANTS

892

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:3036

  • NCBI

    1824

  • OMIM

    125645

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