Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lipase maturation factor 1

The LMF1 gene encodes a protein responsible for proper secretion and intraluminal function of lipoproteinlipase. Mutations lead to a variable degree of hypertriglyceridemia.


Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined lipase deficiency



Davis RC et. al. (1990) Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion.


Blanchette-Mackie EJ et. al. (1986) Effect of the combined lipase deficiency mutation (cld/cld) on ultrastructure of tissues in mice. Diaphragm, heart, brown adipose tissue, lung, and liver.


Paterniti JR et. al. (1983) Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse.


Okamoto Y et. al. (1995) Hypertriglyceridemia caused by the autoantibody to lipases for plasma lipoproteins: a case report.


Briquet-Laugier V et. al. (1999) cld and lec23 are disparate mutations that affect maturation of lipoprotein lipase in the endoplasmic reticulum.


Péterfy M et. al. (2007) Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.


Cefalù AB et. al. (2009) Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.

Update: Sept. 26, 2018