Lipase Maturation Factor 2 (LMF2)

Lipase Maturation Factor 2(LMF2) belongs to the lipase maturation factor family.Involved in the maturation of specific proteins in the endoplasmic reticulum. May be required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway.

The disorder is caused by a decrease in the activity of lipoprotein lipase (LPL) and the related enzyme hepatic lipase, caused by impaired maturation of nascent LPL and hepatic lipase polypeptides in the endoplasmic reticulum (Briquet-Laugier et al., 1999). Peterfy et al. (2007) identified the gene containing the cld mutation as Tmem112 and renamed it Lmf1 for 'lipase maturation factor-1.' They identified the mutation as a murine endogenous retrovirus (MuERV) insertion in intron 7 resulting in truncation of the protein.