Collagen Type I Alpha 2 (COL1a2)

COL1-A2; OI4; Collagen Alpha-2(I)chain; osteogenesis imperfecta type IV; Collagen Of Skin,Tendon And bone,Alpha-2 Chain

SPN	W529
HGNC	2198
MGI	88468
PubMed	15062855
RGD	621351
UniProt	P08123
Wiki	COL1A2

Collagen alpha-2(I) chain is a protein, one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. De Wet et al. (1987) isolated 60 kb of cloned DNA containing the entire COL1A2 gene and 22 kb of flanking sequences. Like the homologous avian gene, the 1,366 amino acid residues of the human prepropolypeptide chain are encoded by 52 exons. Analysis of the 5-prime and 3-prime untranslated regions conclusively established the nature of 5 polymorphic mRNA transcripts. The exons are equally distributed as follows: 6 in the N-propeptide domain, 42 in the alpha-chain region, and 4 in the C-propeptide domain.

Reference

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Am. J. Hum. Genet. 74:917-930(2004) [PubMed] [Europe PMC] [Abstract]

"Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems."
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Clin. Genet. 70:131-139(2006) [PubMed] [Europe PMC] [Abstract]

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Hum. Mutat. 27:599-599(2006) [PubMed] [Europe PMC] [Abstract]

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Hum. Mutat. 32:598-609(2011) [PubMed] [Europe PMC] [Abstract]

"WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta."
N. Engl. J. Med. 368:1809-1816(2013) [PubMed] [Europe PMC] [Abstract]