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.

Genetests:

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

Related Diseases:

Combined lipase deficiency
LMF1

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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.

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6.

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

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7.

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

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8.

NCBI article

NCBI 64788 [^]
9.

OMIM.ORG article

Omim 611761 [^]
10.

Orphanet article

Orphanet ID 269953 [^]
Update: April 29, 2019