COL12A1

COL12A1 (Collagen Type XII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL12A1 include Bethlem Myopathy 2 and Ullrich Congenital Muscular Dystrophy 2. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL14A1.

Full Name

Collagen Type XII Alpha 1 Chain

Function

Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.

Biological Process

Cell adhesion Source: UniProtKB-KW
Collagen fibril organization Source: Reactome
Endodermal cell differentiation Source: UniProtKB

Cellular Location

Extracellular matrix

Involvement in disease

Ullrich congenital muscular dystrophy 2 (UCMD2):
A form of Ullrich muscular dystrophy, a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
Bethlem myopathy 2 (BTHLM2):
A form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. BTHLM2 inheritance is autosomal dominant.

PTM

The triple-helical tail is stabilized by disulfide bonds at each end.
Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.
Isoform 1 O-glycosylation; glycosaminoglycan of chondroitin-sulfate type.