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COL8A2 Gene

collagen type VIII alpha 2 chain

ALIAS SYMBOLS

  • PPCD

  • FECD1

  • PPCD2

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Description

The COL8A2 gene provides instructions for making a component of type VIII collagen called alpha 2(VIII) collagen. Type VIII collagen is largely found within the front surface of the eye, called the cornea. Type VIII collagen is a major component of Descemet's membrane, which is a tissue at the back of the cornea. This membrane is a thin, sheet-like structure that separates and supports corneal endothelium cells. These cells regulate the amount of fluid inside the cornea. An appropriate fluid balance in the cornea is necessary for clear vision.

To construct type VIII collagen, one subunit of the alpha 2(VIII) collagen protein interacts with two subunits of another protein called alpha 1(VIII) collagen. These three proteins twist together to form a triple-stranded, rope-like molecule known as procollagen. Procollagen molecules are secreted by the cell and processed by enzymes to remove extra protein segments from the ends. Once these molecules are processed, they arrange themselves into long, thin bundles of mature type VIII collagen.

CHROMOSOME

1


LOCATION

p34.3


LOCUS TYPE

gene with protein product

VARIANTS

32

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:2216

  • NCBI

    1296

  • OMIM

    120252

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