Full name: collagen, type III, alpha 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: Col3a-1; Tsk-2; Tsk2

Summary: This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named "tight skin 2" exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015]

Expression: Biased expression in bladder adult (RPKM 483.4), limb E14.5 (RPKM 351.2) and 13 other tissues

Gene size: 38169bp

Exon count: 51