基因名称(Gene Name)
LMF1 C16orf26 TMEM112 HMFN1876 JFP11
免疫原
Synthesized peptide derived from human LMF1 AA range: 257-307
特异性
This antibody detects endogenous levels of LMF1 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.144% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
Lipase maturation factor 1 (Transmembrane protein 112)
背景
The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010],
功能
disease:Defects in LMF1 are the cause of combined lipase deficiency (CLD) [MIM:246650]. CLD is 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).,function:Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway.,similarity:Belongs to the lipase maturation factor family.,
