2024年12月24日 · COL1A2 (Collagen Type I Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL1A2 include Osteogenesis Imperfecta, Type Iv and Osteogenesis Imperfecta, Type Iii. Among its related pathways are Collagen chain trimerization and Enhanced binding of GP1BA variant to VWF multimer:collagen.

Collagen alpha-2(I) chain is a protein that in humans is encoded by the COL1A2 gene. [5] [6] This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective tissues.

The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. Learn about this gene and related health conditions.

Sequencing of the COL1A2 gene indicated a 9-bp deletion of nucleotides 3418 to 3426, corresponding to the deletion of codons 1003 to 1006 of the gene and 3 amino acids, gly-pro-pro, of the protein.

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon.

Synonym (s): alpha 2 (I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen. Previous symbol (s) and name (s): OI4, collagen type I alpha 2, collagen, type I, alpha 2, osteogenesis imperfecta type IV. Type: gene with protein product. Chromosomal location: 7q21.3.

Gene: COL1A2; collagen type I alpha 2 chain: Aliases: OI4, EDSCV, EDSARTH2 : Location: 7q21.3: Summary: This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and ...

This gene has 12 transcripts (splice variants), 17 paralogues and is associated with 17 phenotypes. Gene/transcipt that contains an open reading frame (ORF). Protein coding.

2020年12月24日 · The COL1A2 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera).

FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen). SUBUNIT: Trimers of one alpha 2 (I) and two alpha 1 (I) chains. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity). TISSUE SPECIFICITY: Forms the fibrils of tendon, ligaments and bones.