Gene: COL12A1

Alternate names for this Gene: BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q13-q14.1

Description of this Gene: collagen type XII alpha 1 chain

Type of Gene: protein-coding

rs36099249 in COL12A1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs1274606112 in COL12A1 gene and BETHLEM MYOPATHY 2 PMID 24334769 2014 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

PMID 24334604 2014 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

PMID 27159402 2016 Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

PMID 27348394 2017 Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

rs1412710 in COL12A1 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs2300795 in COL12A1 gene and Endometriosis PMID 28881265 2017 New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study.

rs1554168326 in COL12A1 gene and Muscle hypotonia PMID 24334604 2014 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

PMID 24334769 2014 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

rs1274606112 in COL12A1 gene and ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 PMID 27348394 2017 Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

PMID 27159402 2016 Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

PMID 24334604 2014 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

PMID 24334769 2014 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.