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176 ACAN

176

ACAN

aggrecan

protein-coding

Homo sapiens

基因描述

Type Description
Definition aggrecan

研究结论

Date Results Publications
2021-02-02 13:22:00 Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review. 33471655
2020-09-12 16:03:00 Short stature with precocious puberty caused by aggrecan gene mutation: A case report. 32846772
2020-07-04 11:58:00 Isolated short stature and advanced bone age due to heterozygous aggrecan gene mutations exemplifies how this progress is changing the way we assess, counsel and treat children with non-endocrine growth disorders--{REVIEW} 32413843
2020-02-29 10:05:00 ACAN pathogenic variants presented a common cause of familial idiopathic short stature. 31841439
2020-01-18 12:16:00 Activation of G-protein-coupled bile acid receptor Gpbar1 (TGR5) inhibits degradation of type II collagen and aggrecan in human chondrocytes 31075239

名称对应

Type IDs
Synonymous AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD
Gene
UniProtKB-ID: PGCA_HUMAN
UniprotKB: P16112
UniParc: UPI0001B23381, UPI000041D639, UPI0001B23382
EMBL: AC103982, M55172, X17406, J05062, S74659, X80278, BC150624
Ensembl: ENSG00000157766
KO: hsa:176
Nucleutide sequences
EMBL-CDS: AAA35726.1, CAA35463.1, AAC60643.2, AAI50625.1, AAA62824.1
Ensembl_TRS: ENST00000439576, ENST00000352105, ENST00000559004
Protein sequencees
Ensembl_PRO: ENSP00000453499, ENSP00000341615, ENSP00000387356
RefSeq: XP_011519616.1, NP_001356197.1, NP_037359.3, XP_011519615.1, NP_001126.3
Others
UniRef100: UniRef100_P16112
UniRef90: UniRef90_P16112
UniRef50: UniRef50_P16112
UniGene: Hs.2159, Hs.616395
CCDS: CCDS53970.1, CCDS53971.1

全选

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