COL5A1

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COL5A12017-01-02T14:42:32+00:00

COL5A1

GENETICS

The gene on chromosome 9q34.2-q34.3 that encodes collagen—type V—alpha 1 (collagen 5—alpha 1, OMIM: 120215, UniProtKB: P20908), an alpha chain for a low abundance fibrillar collagen.

Molecular pathology Defects of COL5A1 cause both the severe—Ehlers-Danlos syndrome—type 1 (OMIM:130000) and the classic milder Ehlers-Danlos syndrome—type 2 (OMIM:130010). 

Synonyms Alpha 1 type V collagen, EC 2.7.7.6, EC 6.1.1 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL5A1 

http://www.uniprot.org/uniprot/P20908

 

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