COL27A1 (Entrez ID: 85301)

Entrez Gene ID 85301
Official Gene Symbol COL27A1 (GeneCards)
Full name collagen type XXVII alpha 1 chain
Location 9q32
Other ids Vega : OTTHUMG00000020537
MIM : 608461
HGNC : HGNC:22986
Ensembl : ENSG00000196739
Other names STLS
Summary This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

Variants

Found 1 variant in this database.