例如："NBL1", "4681", "drought"
收藏
3909 LAMA3

3909

LAMA3

laminin subunit alpha 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition laminin subunit alpha 3

研究结论

Date Results Publications
2019-09-14 11:58:00 The authors describe the natural history of JEB in three children with the same LAMA3 splice-site mutation. In spite of residual laminin 332, two of them died prematurely. 29077994
2019-07-27 11:43:00 We identified two pathogenic and 10 loss-of-function (LOF) candidate variants, accounting for 4.74% (12 out of 253) of all the. In burden tests, rare missense variants in three genes (CSF3R, DSP, and LAMA3) were identified that have a statistically significant relationship with Idiopathic pulmonary fibrosis 29920840
2018-12-22 10:28:00 The study has identified two mutations in two large consanguineous pedigrees. Identification of novel variants in the LAMA3 and PLEC genes will expand the mutation spectrum and also help in genetic counselling of patients in the Pakistani population. 29797489
2017-09-16 11:11:00 Seventeen percent of the patients were compound heterozygous or homozygous for mutations in the gene LAMA3, 59% carried mutations in both alleles of LAMB3, and 12% were homozygous for mutations in LAMC2. In nine patients with severe generalized JEB, detection of two mutations in one of the genes LAMA3, LAMB3, or LAMC2 was not possible, so the molecular basis of disease could not be clarified completely 27375110
2017-07-29 10:20:00 Both parents had offspring affected with JEB and displayed subtle enamel pitting of secondary dentition without any sign of skin blistering. The reported enamel abnormality in LAMA3 mutation carriers could be attributed to a half dose effect of the laminin a3 chain 27827380

名称对应

Type IDs
Synonymous BM600, E170, LAMNA, LOCS
Gene
UniProtKB-ID: LAMA3_HUMAN, A0A0A0MSA0_HUMAN, A0A0A6YYF2_HUMAN, A0A0A0MTS5_HUMAN
UniprotKB: Q16787, A0A0A0MSA0, A0A0A6YYF2, A0A0A0MTS5
UniParc: UPI00000349C1, UPI00001C1221, UPI00001C1222, UPI00001E0588, UPI0004620D1C, UPI00001C1223, UPI0000EE5491
EMBL: AC090366, AC010754, X85108, KF456351, L34155, X84900, AY327115, X85107, CH471088, AY327114, AY327116, AC067796, AB107369, EF444992
Ensembl: ENSG00000053747
KO: hsa:3909
Nucleutide sequences
EMBL-CDS: AAA59483.1, BAD13428.1, AAQ72570.1, ACA06011.1, CAA59325.1, AAQ72569.1, CAA59429.1, AAQ72571.1, CAA59428.1, EAX01167.1, EAX01168.1
Gene_ORFName: hCG_1811249, hCG_1811249
Ensembl_TRS: ENST00000313654, ENST00000399516, ENST00000269217, ENST00000587184
Protein sequencees
Ensembl_PRO: ENSP00000324532, ENSP00000382432, ENSP00000269217, ENSP00000466557
RefSeq: XP_011524283.1, NP_000218.3, XP_011524281.1, NP_001121189.2, XP_016881233.1, NP_001121190.2, XP_016881232.1, XP_011524280.1, NP_001289925.1, XP_011524282.1, NP_937762.2, XP_011524284.1
Others
UniRef100: UniRef100_A0A0A6YYF2, UniRef100_A0A0A0MSA0, UniRef100_Q16787, UniRef100_A0A0A0MTS5
UniRef90: UniRef90_Q16787-1, UniRef90_Q16787, UniRef90_A0A0A0MSA0
UniRef50: UniRef50_Q16787-1, UniRef50_Q16787
UniGene: Hs.436367
CCDS: CCDS42419.1, CCDS45838.1, CCDS59307.1, CCDS11880.1

全选

{{proteinIndex+1}}		 mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}
Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

 {{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

 {{author.size}}

目前还没有研究热点人员

© 2017 biocloud.net版权所有 ICP证：京10042835号