Western Blot (Recombinant protein)

ELISA

Entrez GeneID

1277

GeneBank Accession#

NM_000088

Protein Accession#

NP_000079.1

Gene Name

COL1A1

Gene Alias

OI4

Gene Description

collagen, type I, alpha 1

Omim ID

114000 120150 130000 130060 166200 166210 166220 166710 259420

Gene Ontology

Hyperlink

Gene Summary

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. [provided by R. Dalgleish

Other Designations

alpha 1 type I collagen|collagen alpha 1 chain type I|collagen of skin, tendon and bone, alpha-1 chain|pro-alpha-1 collagen type 1|type I collagen alpha 1 chain