Aliases for COL27A1 Gene
External Ids for COL27A1 Gene
Previous GeneCards Identifiers for COL27A1 Gene
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]
GeneCards Summary for COL27A1 Gene
COL27A1 (Collagen Type XXVII Alpha 1) is a Protein Coding gene. Diseases associated with COL27A1 include steel syndrome and miller-dieker lissencephaly syndrome. Among its related pathways are Degradation of the extracellular matrix and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL3A1.
UniProtKB/Swiss-Prot for COL27A1 Gene
Plays a role during the calcification of cartilage and the transition of cartilage to bone.