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58529 MYOZ1

58529

MYOZ1

myozenin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition myozenin 1

研究结论

Date Results Publications
2014-10-25 11:26:00 Our results implicate MYOZ1 as the causative gene at the chromosome 10q22 locus for AF. 24177373
2010-01-21 00:00:00 Our findings provide evidence for a novel connection between the Z-disc protein calsarcin-2 and the sarcolemma via filamins and beta1 integrins. 16076904
2010-01-21 00:00:00 Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM 17434779
2010-01-21 00:00:00 A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls. 19472918
2010-01-21 00:00:00 Mutations in PDLIM3 and MYOZ1, encoding myocyte Z line proteins, do not play any significant role in the genetic etiology of idiopathic DCM. 17254821

名称对应

Type IDs
Synonymous CS-2, FATZ, MYOZ
Gene
UniProtKB-ID: MYOZ1_HUMAN
UniprotKB: Q9NP98
UniParc: UPI0000073D83
EMBL: AF240633, AF243387, AF243389, AJ278124, AY013297, AF243388, AL359210, AF243390, BC025753
Ensembl: ENSG00000177791
KO: hsa:58529
Nucleutide sequences
EMBL-CDS: AAH25753.1, CAB92967.1, CAB94568.1, AAG24509.1, AAG38940.1, AAG27296.1
Ensembl_TRS: ENST00000359322
Protein sequencees
Ensembl_PRO: ENSP00000352272
RefSeq: NP_067068.1
Others
UniRef100: UniRef100_Q9NP98
UniRef90: UniRef90_Q9NP98
UniRef50: UniRef50_Q9NP98
UniGene: Hs.238756
CCDS: CCDS7330.1

全选

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