Variants
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TGM3 Gene

transglutaminase 3

ALIAS SYMBOLS

  • TGE

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Description

The TGM3 gene provides instructions for making an enzyme called transglutaminase 3. This enzyme is found in certain skin cells called keratinocytes and corneocytes, as well as in various structures that make up scalp hair, including the root and strand (shaft).

Transglutaminase 3 helps proteins attach (bind) to each other at specific protein building blocks (amino acids). Specifically, transglutaminase 3 helps bind proteins together at their glutamine and lysine amino acids. This binding forms stabilizing cross-links between proteins. These protein cross-links provide strength and structure to cells, particularly skin and hair cells.

CHROMOSOME

20


LOCATION

p13


LOCUS TYPE

gene with protein product

VARIANTS

10

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:11779

  • NCBI

    7053

  • OMIM

    600238

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