COL1A1 Recombinant Rabbit Monoclonal Antibody [PSH06-20] (HA722517)

UNIPROT #

P02452

PROTEIN NAME

COL1A1

SYNONYMS

Alpha 1 type I collagen antibody;alpha1(I) procollagen antibody;CO1A1_HUMAN antibody;COL1A1 antibody;collagen alpha 1 chain type I antibody;Collagen alpha-1(I) chain antibody;collagen alpha-1(I) chain preproprotein antibody;Collagen I alpha 1 polypeptide antibody;collagen of skin, tendon and bone, alpha-1 chain antibody;Collagen type I alpha 1 antibody;EDSC antibody;OI1 antibody;OI2 antibody;OI3 antibody;OI4 antibody;pro-alpha-1 collagen type 1 antibody;type I proalpha 1 antibody;type I procollagen alpha 1 chain antibody;Type I procollagen antibody

SUBCELLULAR LOCATION

Secreted.

FUNCTION

This gene encodes the pro-alpha1 chains 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. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.