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16779 Lamb2

16779

Lamb2

laminin, beta 2

protein-coding

Mus musculus

基因描述

Type Description
Definition laminin, beta 2

研究结论

Date Results Publications
2019-09-21 10:54:00 Collectively, these data show the pathogenicity of LAMB2-S80R and provide the first evidence of genetic modification of Alport phenotypes by variation in another GBM component. This 29263159
2019-07-13 11:02:00 Age-related modulation of laminin beta1 versus beta2 chain expression changes the functional properties and phenotype of endothelial cells. The dysregulation of the extracellular matrix during vascular aging may contribute to age-associated impairment of organ function and fibrosis. 29599141
2015-09-12 10:21:00 Loss of Lamb2 alters calcium sensitivity and voltage-gated calcium channel maturation of neurotransmission at the neuromuscular junction 25556799
2014-06-07 12:53:00 Isolated a novel mouse strain with a viable nephrotic phenotype and used whole-genome sequencing to isolate a causative hypomorphic mutation in Lamb2 in hereditary nephrotic syndrome. 24293254
2013-11-02 11:38:00 mild variant of Pierson syndrome caused by the C321R-LAMB2 mutation may be a prototypical ER storage disease, which may benefit from treatment approaches that target the handling of misfolded proteins. 23723427

名称对应

Type IDs
Synonymous AW211941, Lamb-2, Lams, npht
Gene
UniProtKB-ID: LAMB2_MOUSE, Q3USI2_MOUSE
UniprotKB: Q61292, Q3USI2
UniParc: UPI00005ABFA7, UPI0000020FB4
EMBL: BC026051, AK140351, U43541, CH466560, X75928, U42624
Ensembl: ENSMUSG00000052911
KO: mmu:16779
Nucleutide sequences
EMBL-CDS: AAC53535.1, EDL21292.1, CAA53532.1, EDL21291.1, AAH26051.1, BAE24350.1
Ensembl_TRS: ENSMUST00000065014
Protein sequencees
Ensembl_PRO: ENSMUSP00000069087
RefSeq: NP_032509.2, XP_006511711.1
Others
UniRef100: UniRef100_Q61292
UniRef90: UniRef90_Q61292
UniRef50: UniRef50_P55268
UniGene: Mm.425599
CCDS: CCDS23528.1

全选

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