COL1A2
From Wikipedia, the free encyclopedia
Collagen, type I, alpha 2
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Identifiers | ||||||||||||||
Symbol(s) | COL1A2; OI4 | |||||||||||||
External IDs | OMIM: 120160 MGI: 88468 HomoloGene: 69 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 1278 | 12843 | ||||||||||||
Ensembl | ENSG00000164692 | ENSMUSG00000029661 | ||||||||||||
Uniprot | P08123 | Q3TP88 | ||||||||||||
Refseq | NM_000089 (mRNA) NP_000080 (protein) |
NM_007743 (mRNA) NP_031769 (protein) |
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Location | Chr 7: 93.86 - 93.9 Mb | Chr 6: 4.46 - 4.49 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Collagen, type I, alpha 2, also known as COL1A2, is a human gene.
This gene encodes 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. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha-1 type I collagen since alpha-2 is less abundant. Multiple messages for this gene result from multiple polyadenylation signals, a feature shared by most of the other collagen genes.[1]
[edit] See also
[edit] References
[edit] Further reading
- Byers PH, Wallis GA, Willing MC (1991). "Osteogenesis imperfecta: translation of mutation to phenotype.". J. Med. Genet. 28 (7): 433-42. PMID 1895312.
- Kuivaniemi H, Tromp G, Prockop DJ (1991). "Mutations in collagen genes: causes of rare and some common diseases in humans.". FASEB J. 5 (7): 2052-60. PMID 2010058.
- Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.". Hum. Mutat. 9 (4): 300-15. doi: . PMID 9101290.
- Rossert J, Terraz C, Dupont S (2001). "Regulation of type I collagen genes expression.". Nephrol. Dial. Transplant. 15 Suppl 6: 66-8. PMID 11143996.