Variants
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COL9A3 Gene

collagen type IX alpha 3 chain

ALIAS SYMBOLS

  • IDD

  • MED

  • EDM3

  • FLJ90759

  • DJ885L7.4.1

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Description

The COL9A3 gene provides instructions for making part of a large molecule called type IX collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments. In particular, type IX collagen is an important component of cartilage.

Type IX collagen is made up of three proteins that are produced from three distinct genes: one α1(IX) chain, which is produced from the COL9A1 gene, one α2(IX) chain, which is produced from the COL9A2 gene, and one α3(IX) chain, which is produced from the COL9A3 gene. Type IX collagen is more flexible than other types of collagen molecules and is closely associated with type II collagen. Researchers believe that the flexible nature of type IX collagen allows it to act as a bridge that connects type II collagen with other cartilage components. Studies have shown that type IX collagen also interacts with the proteins produced from the MATN3 and COMP genes.

CHROMOSOME

20


LOCATION

q13.33


LOCUS TYPE

gene with protein product

VARIANTS

711

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:2219

  • NCBI

    1299

  • OMIM

    120270

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