Tämä COL2A1- geeni koodaa tyypin II kollageenia, joka on fibrillaarista ja muodostaa rustoa ja silmän lasiasita. tässä rusto ja lasiaiskollageenin peptidisekvenssissä huomaa enemmän BCFA ( haaroittuneita aminohappoja) kuin tuossa jänne- ja luu kollageenissa edellä. Siis viittaisi esim palkohedelmäravinnon ja kalaravinnon etuihin. ruston ja silmän konsistenssin suhteen. On myös alaniinia (a) runsaasti, eli ollut liikuntaa, jossa hiiliketjut ovat saaneet fundamentaalisti aminoryhmänsä .
- Also known as
- AOM; ANFH; SEDC; STL1; COL11A3
- Summary
- This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
- Expression
- Low expression observed in reference dataset See more
- Orthologs mouse all
- Preferred Names
- collagen alpha-1(II) chain
- Names
- alpha-1 type II collagen
- arthroophthalmopathy, progressive (Stickler syndrome)
- cartilage collagen
- chondrocalcin
- collagen II, alpha-1 polypeptide
- collagen, type II, alpha 1
- Structure, sequence, https://www.ncbi.nlm.nih.gov/protein/NP_001835.3
ORIGIN 1 mirlgapqtl vlltllvaav lrcqgqdvqe agscvqdgqr yndkdvwkpe pcricvcdtg 61 tvlcddiice dvkdclspei pfgeccpicp tdlatasgqp gpkgqkgepg dikdivgpkg 121 ppgpqgpage qgprgdrgdk gekgapgprg rdgepgtpgn pgppgppgpp gppglggnfa 181 aqmaggfdek aggaqlgvmq gpmgpmgprg ppgpagapgp qgfqgnpgep gepgvsgpmg 241 prgppgppgk pgddgeagkp gkagergppg pqgargfpgt pglpgvkghr gypgldgakg 301 eagapgvkge sgspgengsp gpmgprglpg ergrtgpaga agargndgqp gpagppgpvg 361 paggpgfpga pgakgeagpt gargpegaqg prgepgtpgs pgpagasgnp gtdgipgakg 421 sagapgiaga pgfpgprgpp gpqgatgplg pkgqtgepgi agfkgeqgpk gepgpagpqg 481 apgpageegk rgargepggv gpigppgerg apgnrgfpgq dglagpkgap gergpsglag 541 pkgangdpgr pgepglpgar gltgrpgdag pqgkvgpsga pgedgrpgpp gpqgargqpg 601 vmgfpgpkga ngepgkagek glpgapglrg lpgkdgetga agppgpagpa gergeqgapg 661 psgfqglpgp pgppgeggkp gdqgvpgeag apglvgprge rgfpgergsp gaqglqgprg 721 lpgtpgtdgp kgasgpagpp gaqgppglqg mpgergaagi agpkgdrgdv gekgpegapg 781 kdggrgltgp igppgpagan gekgevgppg pagsagarga pgergetgpp gpagfagppg 841 adgqpgakge qgeagqkgda gapgpqgpsg apgpqgptgv tgpkgargaq gppgatgfpg 901 aagrvgppgs ngnpgppgpp gpsgkdgpkg argdsgppgr agepglqgpa gppgekgepg 961 ddgpsgaegp pgpqglagqr givglpgqrg ergfpglpgp sgepgkqgap gasgdrgppg 1021 pvgppgltgp agepgregsp gadgppgrdg aagvkgdrge tgavgapgap gppgspgpag 1081 ptgkqgdrge agaqgpmgps gpagargiqg pqgprgdkge agepgerglk ghrgftglqg 1141 lpgppgpsgd qgasgpagps gprgppgpvg psgkdgangi pgpigppgpr grsgetgpag 1201 ppgnpgppgp pgppgpgidm safaglgpre kgpdplqymr adqaagglrq hdaevdatlk 1261 slnnqiesir spegsrknpa rtcrdlklch pewksgdywi dpnqgctlda mkvfcnmetg 1321 etcvypnpan vpkknwwssk skekkhiwfg etinggfhfs ygddnlapnt anvqmtflrl 1381 lstegsqnit yhcknsiayl deaagnlkka lliqgsndve iraegnsrft ytalkdgctk 1441 htgkwgktvi eyrsqktsrl piidiapmdi ggpeqefgvd igpvcfl //
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