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64788 LMF1

64788

LMF1

lipase maturation factor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition lipase maturation factor 1

研究结论

Date Results Publications
2019-10-12 11:16:00 rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia 30037590
2019-10-05 11:53:00 LMF1 is needed for secretion of some ER client proteins that require reduction of non-native disulfides during their folding. 30068531
2019-07-13 11:01:00 A heterozygous LMF1 nonsense variant was found in a hypertriglyceridemia-acute pancreatitis patient with severe obesity and heavy smoking, highlighting an important interplay between genetic and lifestyle factors in the etiology of hypertriglyceridemia. 30885219
2019-06-15 11:49:00 Compound heterozygous mutation of LMF1 gene is associated with Hypertriglyceridemia. 29910226
2018-01-13 13:57:00 Triglyceride-raising variant alleles of the LMF1 encoding lipase maturation factor 1, associated with clinical Cardiovascular endpoints. 28534127

名称对应

Type IDs
Synonymous C16orf26, HMFN1876, JFP11, TMEM112, TMEM112A
Gene
UniProtKB-ID: LMF1_HUMAN
UniprotKB: Q96S06
UniParc: UPI000006E366, UPI000013FC7D
EMBL: AL008727, AK093050, KF456135, AC009041, AL031716, KF456139, KF456144, AK025955, AL031008, KF456141, AE006465, Z93041, AK022743, BC010738, CH471112, AB075873
Ensembl: ENSG00000103227
KO: hsa:64788
Nucleutide sequences
EMBL-CDS: AAH10738.2, BAG52642.1, AAK61259.1, BAD38655.1, BAB14218.1, BAB15295.1, EAW85700.1
Gene_ORFName: JFP11, HMFN1876
Ensembl_TRS: ENST00000543238, ENST00000262301
Protein sequencees
Ensembl_PRO: ENSP00000262301, ENSP00000437418
RefSeq: NP_001338949.1, NP_073610.2, NP_001338946.1, NP_001338950.1, NP_001338948.1, NP_001338947.1
Others
UniRef100: UniRef100_Q96S06
UniRef90: UniRef90_Q96S06
UniRef50: UniRef50_Q3U3R4
UniGene: Hs.71912
CCDS: CCDS45373.1

全选

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