Full name: collagen, type II, alpha 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: Col2; Col2a; Col2a-1; Del1; Dmm; Lpk; M100413; Rgsc413; Rgsc856

Summary: This gene encodes the alpha-1 subunit of the fibril-forming type II collagen, the major component of cartilage and the vitreous humor of the eye. The encoded preproprotein forms homotrimeric, triple helical procollagen that undergoes proteolytic processing during fibirl formation. Mice harboring certain mutations in this gene exhibit severe chondrodysplasia characterized by short limbs and trunch, craniofacial deformities and cleft palate. A complete lack of the encoded protein in mice results in postnatal lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Dec 2015]

Expression: Biased expression in limb E14.5 (RPKM 504.7), CNS E14 (RPKM 67.6) and 1 other tissue

Gene size: 29240bp

Exon count: 54