Variants
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COL7A1 Gene

collagen type VII alpha 1 chain

ALIAS SYMBOLS

  • None

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Description

The COL7A1 gene provides instructions for making a protein called pro-α1(VII) chain that is used to assemble a larger protein called type VII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type VII collagen plays an essential role in strengthening and stabilizing the skin.

Three pro-α1(VII) chains twist together to form a triple-stranded, ropelike molecule known as a procollagen. Cells release (secrete) procollagen molecules, and enzymes cut extra protein segments from the ends. Then the molecules arrange themselves into long, thin bundles of mature type VII collagen.

Type VII collagen is the major component of structures in the skin called anchoring fibrils. These fibrils are found in a region known as the epidermal basement membrane zone, which is a two-layer membrane located between the top layer of skin, called the epidermis, and an underlying layer called the dermis. Anchoring fibrils hold the two layers of skin together by connecting the epidermal basement membrane to the dermis.

CHROMOSOME

3


LOCATION

p21.31


LOCUS TYPE

gene with protein product

VARIANTS

1,791

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Phenotypes

External Links

  • HGNC

    HGNC:2214

  • NCBI

    1294

  • OMIM

    120120

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