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8048 CSRP3

8048

CSRP3

cysteine and glycine rich protein 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition cysteine and glycine rich protein 3

研究结论

Date Results Publications
2021-01-30 13:03:00 Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. 31919335
2020-08-01 10:50:00 MLP-deficient human embryonic stem cell derived cardiomyocytes recapitulate the pathogenesis of hypertrophic cardiomyopathy. 31406109
2018-09-15 11:24:00 Previous results along with the newly identified homozygous CSRP3 truncating variants in two unrelated hypertrophic cardiomyopathy (HCM) patients suggest that the association of CSRP3 as a validated HCM-causing gene require additional studies and those CSRP3 variants could result in HCM with an autosomal recessive inheritance rather than with an autosomal dominant transmission as usually reported on HCM. 30012424
2014-10-11 11:03:00 MLP contributes to the maintenance of cardiomyocyte cytoarchitecture by a mechanism involving its self-association and actin filament cross-linking. 24934443
2014-09-13 10:08:00 study reports the discovery of an alternative splice variant of muscle lim protein encoded by the CSRP3 gene, designated as MLP-b, showing distinct expression in neuromuscular disease and direct roles in actin dynamics and muscle differentiation 24860983

名称对应

Type IDs
Synonymous CLP, CMD1M, CMH12, CRP3, LMO4, MLP
Gene
UniProtKB-ID: CSRP3_HUMAN, A2TDB8_HUMAN
UniprotKB: P50461, A2TDB8
UniParc: UPI000011DC5F, UPI0008592515
EMBL: U20324, U72897, CH471064, JN898958, AK313289, BC024010, U72899, U72898, U72895, BC005900, BC057221, U72896, EF179182, U49837, AF121260, U72894
Ensembl: ENSG00000129170
KO: hsa:8048
Nucleutide sequences
EMBL-CDS: AAF28868.1, AAH05900.1, AFH66949.1, AAD00189.1, AAH24010.1, AAH57221.1, AAA91104.1, AAA92571.1, AAD00183.1, BAG36097.1, EAW68355.1, ABN05285.1
Gene_ORFName: hCG_1811041
Ensembl_TRS: ENST00000533783, ENST00000265968, ENST00000649235
Protein sequencees
Ensembl_PRO: ENSP00000431813, ENSP00000265968, ENSP00000497388
RefSeq: NP_001356333.1, NP_003467.1
Others
UniRef100: UniRef100_P50461
UniRef90: UniRef90_P50461
UniRef50: UniRef50_P50461
UniGene: Hs.83577
CCDS: CCDS7848.1

全选

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