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LMF1 - lipase maturation factor 1 Gene

Also Known as JFP11; TMEM112; C16orf26; HMFN1876; TMEM112A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64788

About LMF1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:853,634-981,613 (from NCBI)

This gene has 17 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues.

Summary

Involved in triglyceride metabolic process. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial Lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Apr 2022]

LMF1 Products (6)

mRNA	Protein	Name
NM_001352017.2	NP_001338946.1	lipase maturation factor 1 isoform 2
NM_001352018.2	NP_001338947.1	lipase maturation factor 1 isoform 3
NM_001352019.2	NP_001338948.1	lipase maturation factor 1 isoform 4
NM_001352020.1	NP_001338949.1	lipase maturation factor 1 isoform 5
NM_001352021.2	NP_001338950.1	lipase maturation factor 1 isoform 2
NM_022773.4	NP_073610.2	lipase maturation factor 1 isoform 1

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Verweise	Source
involved in triglyceride metabolic process	IMP IMP: Inferred from mutant phenotype	17994020	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMF1 Protein Structure

LMF1

0
100
200
300
400
500
567 a.a.

Protein Preferred Names	Protein Names
lipase maturation factor 1	transmembrane protein 112

Related Diseases

Diseases	Alias
Lipase Deficiency, Combined	Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency Lpl And Htgl Deficiency Lpl And Hl Deficiency Familial Lipase Maturation Factor 1 Deficiency Lipase Deficiency Combined Combined Lipase Deficiency Familial Lmf1 Deficiency CLD
Hyperlipoproteinemia, Type I	Lipoprotein Lipase Deficiency Familial Chylomicronemia Syndrome Lpl Deficiency Hyperchylomicronemia, Familial Hyperlipemia, Idiopathic, Burger-Grutz Type Hyperlipemia, Essential Familial Lipase D Deficiency Lipd Deficiency Hyperlipoproteinemia, Type Ia Chylomicronemia, Familial High Density Lipoprotein Cholesterol Level Qtl 11 Hyperlipoproteinemia Type 1 Hyperlipoproteinemia 1 HLPP1 Lipoprotein Lipase Hyperlipoproteinemia Type I Familial Hyperchylomicronemia Syndrome
Pancreatitis	Mumps Pancreatitis
Hyperlipoproteinemia, Type Iv	Hyperlipoproteinemia Type Iv Carbohydrate-Inducible Hyperlipemia Endogenous Hyperlipidaemia Familial Hypertriglyceridemia Fredrickson Type Iv Hyperlipoproteinemia Fredrickson Type Iv Lipidaemia Fredrickson Type Iv Lipidemia Vldl Hyperlipoproteinemia Hyperlipoproteinemia Type 4 Carbohydrate Inducible Hyperlipemia Familial Type Iv Hyperlipoproteinemia Familial Hyperlipoproteinemia Type Iv
Familial Lipoprotein Lipase Deficiency	Familial Lpl Deficiency Familial Hyperchylomicronemia Hyperlipoproteinemia Type I Familial Hyperlipoproteinemia Type I Hyperchylomicronemia Burger-Grutz Syndrome Endogenous Hypertriglyceridaemia Familial Fat-Induced Hypertriglyceridemia Lipd Deficiency Lpl Deficiency Lipase D Deficiency Lipoprotein Lipase Deficiency, Familial Familial Chylomicronemia Syndrome Fredrickson Type I Hyperlipoproteinemia Fredrickson Type I Lipaemia Hypercholesterinaemic Xanthomatosis Mixed Hyperglyceridemia Lipoprotein Lipase Deficiency Type I Hyperlipoproteinemia Hyperlipoproteinemia Type Ia Familial Hyperlipo-Proteinemia Type 1
Familial Hyperlipidemia	Familial Hyperlipoproteinemia Hyperlipidaemia Hyperlipoproteinemias Hyperlipidemia Hyperlipemia Hyperlipidemias
Familial Apolipoprotein C-Ii Deficiency	Familial Apoc-Ii Deficiency Familial Apoc2 Deficiency C-Ii Anapolipoproteinemia Hyperlipoproteinemia, Type 1b Hyperlipoproteinemia, Type Ib Hyperlipoproteinemia Type I
Hypobetalipoproteinemia, Familial, 1	Hypobetalipoproteinemia Familial Hypobetalipoproteinemia 1 Familial Hypobetalipoproteinemia FHBL1 Hypobetalipoproteinemia, Familial Fhbl Acanthocytosis With Hypobetalipoproteinemia Hypobetalipoproteinemias Hypobetalipoproteinemia, Normotriglyceridemic Hypo-Beta-Lipoproteinemia Hypobetalipoprotéinemia, Familial Normotriglyceridemic Hypobetalipoproteinemia Hypobetalipoproteinemia, Familial, Type 1
Hypoalphalipoproteinemia, Primary, 1	Familial Hdl Deficiency Fha High Density Lipoprotein Deficiency Familial Hypoalphalipoproteinemia Hypoalphalipoproteinemia, Familial Hdld Fhd Hdl Deficiency, Type 2 Primary Hypoalphalipoproteinemia 1 Hdl Cholesterol, Low Serum Hdlc Hdl Deficiency, Familial, 1 Hypoalphalipoproteinemia, Primary Low Serum Hdl Cholesterol Primary Hypoalphalipoproteinemia FHA1 Hdld2 High Density Lipoprotein Deficiency 2 Hypoalphalipoproteinemias Apolipoprotein A-I Deficiency
Hyperlipidemia, Familial Combined, 3	Familial Combined Hyperlipidemia Combined Hyperlipidemia, Familial Mixed Hyperlipidaemia FCHL3 Hyperlipidemia, Familial Combined Familial Multiple Lipoprotein-Type Hyperlipidemia Hyperbetalipoproteinemia With Prebetalipoproteinemia Type Iib Hyperlipoproteinemia Hyperlipidemia Familial Combined Hyperlipoproteinemia Type Iib Mixed Hyperlipemia Hyperlipidaemia, Group C Familial Hypercholesterolaemia With Hyperlipaemia Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia Hyperbetalipoproteinaemia With Prebetalipoproteinaemia Hypercholesterolaemia With Endogenous Hyperglyceridaemia Prebetalipoproteinemia Hyperbetalipoproteinaemia Remnant Hyperlipoproteinemia
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS07711	LMF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LMF1	VGNC	VGNC:84515
Rattus norvegicus	LMF1	RGD	RGD:1310180
Macaca mulatta	LMF1	VGNC	VGNC:84516
Mus musculus	LMF1	MGD	MGI:1923733
Felis catus	LMF1	VGNC	VGNC:97481
Canis familiaris	LMF1	VGNC	VGNC:54038
Others	LMF1	NCBI