Molecular weight (DA)
60kD
Immunogen
Synthesized peptide derived from human LMF1 AA range: 257-307
Specificity
This antibody detects endogenous levels of LMF1 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.144% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
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],
Function
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.,
Gene Name
LMF1 C16orf26 TMEM112 HMFN1876 JFP11
Other name
Lipase maturation factor 1 (Transmembrane protein 112)
Human protein sequence Database
Q96S06
Mouse protein sequence database
Q3U3R4
Rat protein sequence database
Cellular localization
Endoplasmic reticulum membrane ; Multi-pass membrane protein .
Tissue expression
Hepatoblastoma,Kidney epithelium,Pancreas,Teratocarcinoma,Testis,
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