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12813 Ensembl ENSG00000123500 ENSMUSG00000039462 UniProt Q03692 Q05306 RefSeq (mRNA) NM_000493 NM_009925 RefSeq (protein) NP_000484 NP_034055 Location (UCSC) Chr 6: 116.12 – 116.16 Mb Chr 10: 34.27 – 34.27 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene. This gene ...
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels.
1277 12842 Ensembl ENSG00000108821 ENSMUSG00000001506 UniProt P02452 P11087 RefSeq (mRNA) NM_000088 NM_007742 RefSeq (protein) NP_000079 NP_031768 Location (UCSC) Chr 17: 50.18 – 50.2 Mb Chr 11: 94.83 – 94.84 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene ...
107581 Ensembl ENSG00000084636 ENSMUSG00000040690 UniProt Q07092 Q8BLX7 RefSeq (mRNA) NM_001856 NM_028266 RefSeq (protein) NP_001847 NP_082542 NP_001391281 NP_001391282 Location (UCSC) Chr 1: 31.65 – 31.7 Mb Chr 4: 129.94 – 129.99 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-1(XVI) chain is a protein that in humans is encoded by the COL16A1 gene. Function This ...
12814 Ensembl ENSG00000060718 ENSMUSG00000027966 UniProt P12107 Q61245 RefSeq (mRNA) NM_001190709 NM_001854 NM_080629 NM_080630 NM_007729 RefSeq (protein) NP_001177638 NP_001845 NP_542196 NP_542197 NP_031755 Location (UCSC) Chr 1: 102.88 – 103.11 Mb Chr 3: 113.82 – 114.01 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-1(XI) chain is a protein that in humans is ...
Mutations in the COL11A2 gene have been shown to cause hearing loss without other signs or symptoms (nonsyndromic deafness autosomal dominant) in two large families.One family carries a mutation that substitutes the amino acid cysteine (a building block of proteins) for the amino acid arginine at position 549 (written as Arg549Cys) in the alpha 2 chain of type XI collagen.
1280 12824 Ensembl ENSG00000139219 ENSMUSG00000022483 UniProt P02458 P28481 RefSeq (mRNA) NM_001844 NM_033150 NM_001113515 NM_031163 RefSeq (protein) NP_001835 NP_149162 NP_001106987 NP_112440 Location (UCSC) Chr 12: 47.97 – 48 Mb Chr 15: 97.87 – 97.9 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia ...
Type XVIII collagen is a type of collagen which can be cleaved to form endostatin.The endostatin is from the c terminus end of the collagen XVIII, and is known to have an inhibitory effect on the growth of blood vessels.