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
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.144% sodium azide.
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景(Background)
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.,
基因名称(Gene Name)
LMF1 C16orf26 TMEM112 HMFN1876 JFP11
其他名称
Lipase maturation factor 1 (Transmembrane protein 112)
细胞定位
Endoplasmic reticulum membrane ; Multi-pass membrane protein .
组织表达
Hepatoblastoma,Kidney epithelium,Pancreas,Teratocarcinoma,Testis,