col1a1 gene – col1a1 ehlers danlos

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COL1A1

COL1A1 collagen, genre I, alpha 1 is a protein-coding gene, Diseases associated with COL1A1 include ehlers-danlos syndrome, manière vii, and oi façon ii, GO annotations related to this gene include platelet-derived growth factor binding and identical protein binding, An important paralog of this gene is COL4A6,

COL1A1 collagen, forme I, alpha 1 is a protein-coding gene, Diseases associated with COL1A1 include ehlers-danlos syndrome, forme vii , and oi trempe ii , GO annotations related to this gene include platelet-derived growth factor binding and identical protein binding ,

End : 48,279,000 bp from pter

Orphanet: Gènes

COL1A1 – collagen acabit I alpha 1 chain Synonyme s : OI4 Anciens symbols et noms : collagen classe I alpha 1 Trempe : Gène avec produit protéique Localisation chromosomique : 17q21,33, OMIM : 120150, HGNC: 2197, UniProtKB: P02452, Genatlas: COL1A1,

COL1A1 Collagen Variété I Alpha 1 Chain is a Protein Coding gene, Diseases associated with COL1A1 include Caffey Disease and Osteogenesis Imperfecta, Sorte I , Among its related pathways are ERK Signaling and Development_Hedgehog and PTH signaling pathways in bone and cartilage development ,

COL1A1 collagen sorte I alpha 1 chain

COL1A1 gene Collagen, Genre I, Alpha 1

col1a1 gene

COL1A1 Gene – GeneCards

HGNC:2197, COL1A1: MIM i: 120150, gene: neXtProt i: NX_P02452: VEuPathDB i: HostDB:ENSG00000108821,13

The COL1A1 gene proinoccupés instructions for making part of a copieux molecule called classe I collagen Collagens are a family of proteins that strengthen and soubassement many tissues in the body including cartilage bone tendon skin and the white part of the eye the sclera,

Collagen, genre I, alpha 1

Overview

Grandiloquences in the COL1A1 and COL1A2 genes associated with

 · The COL1A1 gene proécartés instructions for making part of a ample molecule called variété I collagen, Collagens are a family of proteins that strengthen and acrotère many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye the sclera, Trempe I collagen is the most abundant form of collagen in the human body,

Date s : Modify2021-07-13Create2016-09-14

COL1A1 collagen façon I alpha 1

COL1A1 Gene – GeneCards

 · Genetic polymorphisms within the major alpha chains of the collagen forme I gene COL1A1 which is located on chromosome 17q21 have been shown to économat the predisposition for ACL révocation in non-athletic cohorts 13 In pensifcular the functional COL1A1 Sp1 binding site polymorphism COL1A1 Sp1 +1245G/T rs1800012 initially described in 1996, 14 has been …

Cited by : 90

 · COL1A1 collagen trempe I alpha 1 chain Gene ID: 1277, updated on 2-Aug-2021 Gene trempe: protein coding Also known as: OI1; OI2; OI3; OI4; EDSC; CAFYD; EDSARTH1, See all available tests in GTR for this gene; Go to complete Gene record for COL1A1; Go to Variation Viewer for COL1A1 variants; Summary

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COL1A1 gene: MedlinePlus Genetics

Faux-semblants in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta OI formes I or III Although over 85% of osteogenesis imperfecta OI cases are associated with pompes in the procollagen trempe I genes COL1A1 or COL1A2 no hot spots for the prétentions were associated with excusécular clinical phenoacabits,

Cited by : 7

Clinical charachèvementristics and the identification of novel

The COL1A1 gene is 18 kb in size and is composed of 52 exons Exons 6 to 49 encode the alpha helical domain Most of these exons were 45 bp 54 bp or multiple of 45 bp or 54 bp: Transcription: Two RNA of 58 kb and 4,8 kb differing by their 3 terminus non coding sequence and giving rise to …

The aim of the present study was to investigate the pathogenic gene pathos spectrum and clinical manifestations of afféteries in collagen calibre I alpha 1 COL1A1 and collagen façon I alpha 2 COL1A2 genes in Chinese paà toits with OI A groupé of 61 unrelated Chinese OI paà toits with COL1A1 and COL1A2 afféteries were recruited,

Cited by : 8

Gene variants within the COL1A1 gene are associated with

COL1A1 human