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10491 CRTAP

10491

CRTAP

cartilage associated protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition cartilage associated protein

研究结论

Date Results Publications
2020-10-24 14:01:00 Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.", trans "Osteogenesis imperfecta causada por mutacion en los genes COL1A1, CRTAP y LEPRE1. Estudio de 2casos. 30389107
2017-12-02 11:23:00 To the best of our knowledge, our study is the first to exclude potential correlations between heterozygous variants in CRTAP and milder skeletal impairments in a large number of patients 27901313
2016-09-17 10:43:00 This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI. 26634552
2014-01-04 13:17:00 An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro. 24043621
2011-04-02 10:17:00 SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck bone mineral density (p = 0.009 and p = 0.003, respectively). 19727905

名称对应

Type IDs
Synonymous CASP, LEPREL3, OI7, P3H5
Gene
UniProtKB-ID: CRTAP_HUMAN
UniprotKB: O75718
UniParc: UPI000012700A
EMBL: AJ006470, AK314719, BC008745
Ensembl: ENSG00000170275
KO: hsa:10491
Nucleutide sequences
EMBL-CDS: BAG37263.1, CAA07054.1, AAH08745.1
Ensembl_TRS: ENST00000320954
Protein sequencees
Ensembl_PRO: ENSP00000323696
RefSeq: NP_006362.1
Others
UniRef100: UniRef100_O75718
UniRef90: UniRef90_O75718
UniRef50: UniRef50_O75718
UniGene: Hs.517888
CCDS: CCDS2657.1

全选

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