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:
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.
Subcellular Location:
Endoplasmic reticulum membrane.
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).
Similarity:
Belongs to the lipase maturation factor family.
SWISS:
Q96S06
Gene ID:
64788
Database links:
Entrez Gene: 64788 Human
Omim: 611761 Human
SwissProt: Q96S06 Human
Unigene: 71912 Human
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