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Immunogen sequence: SSEVTQHITI HCLNMTVWQE GTGQTPAKQA VRFRAWNGQI FEAGGQFRPE VSMDGCKVQD GRWHQTLFTF RTQDPQQLPI ISVDNLPPAS SGKQYRLEVG PACFL
Highest antigen sequence identity to the following orthologs: Mouse - 90%, Rat - 90%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Collagen alpha-1(XXVII) chain; collagen, type XXVII, alpha 1
Gene Aliases: COL27A1; KIAA1870; STLS
UniProt ID: (Human) Q8IZC6
Entrez Gene ID: (Human) 85301
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