Entity Details

Primary name LMF1
Entity type gene
Source Source Link

Details

PrimaryID64788
RefseqGeneNG_021286
SymbolLMF1
Namelipase maturation factor 1
Chromosome16
Location16p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLMF1_HUMAN

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0006641 triglyceride metabolic process
GO:0016021 integral component of membrane
GO:0051004 regulation of lipoprotein lipase activity
GO:0051604 protein maturation

Diseases

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Disease IDSourceNameDescription
246650 OMIMCombined lipase deficiency (CLD)Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). The disease is caused by variants affecting the gene represented in this entry.