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284217 LAMA1

284217

LAMA1

laminin subunit alpha 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition laminin subunit alpha 1

研究结论

Date Results Publications
2020-11-21 13:28:00 Organisation of extracellular matrix proteins laminin and agrin in pericapillary basal laminae in mouse brain. 32072250
2020-01-04 10:49:00 intrinsic interaction between AG73 in the tumor environment and the proteoglycan receptors Sdcs on breast cancer cells in supporting tumor cell adhesion and invasion through filopodia, is an important step in cancer metastasis. 31183318
2017-12-02 12:12:00 We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics 28544784
2017-10-21 11:46:00 LAMA1 SNP rs2089760 plays an important role in the development of PM. 26862816
2017-08-26 11:50:00 LAMA1 deficiency can lead to alteration in cytoskeletal dynamics, which may invariably lead to alteration in dendrite growth and axonal formation. Patient-derived fibroblasts have impaired adhesion, reduced migration, abnormal morphology and increased apoptosis due to impaired activation of Cdc42, a member of the Rho family of GTPases that is involved in cytoskeletal dynamics. 27095636

名称对应

Type IDs
Synonymous LAMA, PTBHS, S-LAM-alpha
Gene
UniProtKB-ID: LAMA1_HUMAN
UniprotKB: P25391
UniParc: UPI00001C1FF9
EMBL: X58531, AP005062, AP002409, AP005210
Ensembl: ENSG00000101680
KO: hsa:284217
Nucleutide sequences
EMBL-CDS: CAA41418.1
Ensembl_TRS: ENST00000389658
Protein sequencees
Ensembl_PRO: ENSP00000374309
RefSeq: NP_005550.2
Others
UniRef100: UniRef100_P25391
UniRef90: UniRef90_P25391
UniRef50: UniRef50_P19137
UniGene: Hs.270364
CCDS: CCDS32787.1

全选

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研究热度

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