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Collagen, type XII, alpha 1

From Wikipedia, the free encyclopedia
COL12A1
Identifiers
AliasesCOL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP
External IDsOMIM: 120320; MGI: 88448; HomoloGene: 3217; GeneCards: COL12A1; OMA:COL12A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004370
NM_080645

NM_001290308
NM_007730

RefSeq (protein)

NP_004361
NP_542376

NP_001277237

Location (UCSC)Chr 6: 75.08 – 75.21 MbChr 9: 79.51 – 79.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.[5][6]

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.

Alternatively spliced transcript variants encoding different isoforms have been identified.[6]

Clinical significance

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Mutations in COL12A1 are known to cause the following conditions:

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111799Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032332Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, et al. (April 1997). "Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13". Genomics. 41 (2): 236–242. doi:10.1006/geno.1997.4638. PMID 9143499.
  6. ^ a b "Entrez Gene: COL12A1 collagen, type XII, alpha 1".
  7. ^ a b "Collagen, Type XII, Alpha-1; COL12A1 Gene-Phenotype Relationships". Online Mendelian Inheritance in Man.

Further reading

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