Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: LSWTKAGSPA PPGVIPFQSG FIFTQRARLQ APTGTIIPAA LGTELALVLS LCSHRVNHAF LFAVRSRKRK LQLGLQFLPG KTVVHLGSRR SVAFDLDMHD GRWHHLALEL RGRTVTLVTA CGQRRVPVLL PFHRDPALDP GGSFLFGKMN PHAVQFEGAL CQFSIYPVTQ VAHNYCTHLR KQCGQADTYQ SPLGPLFSQD SGRPFTFQSD LALLGLENLT TATPALGSLP AGRGPRGTVA PATPTKPQRT SPTNPHQHMA VGGPAQTPLL PAKLSASNAL DPMLPASVGG STRTPRPAAA QPSQKITATK IPKSLPTKPS APSTSIVPI
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.
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Protein Aliases: Collagen alpha-1(XXVII) chain; collagen, type XXVII, alpha 1; procollagen, type XXVII, alpha 1
Gene Aliases: 5730512J02Rik; AI449266; COL27A1; KIAA1870; mKIAA1870; STLS
UniProt ID: (Human) Q8IZC6, (Mouse) Q5QNQ9
Entrez Gene ID: (Human) 85301, (Mouse) 373864
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