GeneBe

LMF1

protein-coding

lipase maturation factor 1

Gene summary

Involved in triglyceride metabolic process. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:
  • C16orf26
  • TMEM112

MANE transcript

NM_022773.4

Inheritance

AR

ClinVar variants

P:39U:330B:282

Top phenotype

Combined lipase deficiency

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr16:853,634-981,318

External References & Databases

Ensembl (ENSG00000103227)NCBI Gene (64788)OMIM (611761)HGNC:14154GenCCUniProt (Q96S06)AlphaFoldClinVar (LMF1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~127.7 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

lipase deficiency, combinedSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0009527

Submitter: Genomics England PanelApp

lipase deficiency, combinedMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0009527

Submitter: Ambry Genetics

lipase deficiency, combinedSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0009527

Submitter: Labcorp Genetics (formerly Invitae)

lipase deficiency, combinedSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0009527

Submitter: PanelApp Australia

lipase deficiency, combinedSUPPORTIVE

Inheritance Pattern: AR

Disease ID:MONDO:0009527

Submitter: Orphanet

Clinical Genomic Database (CGD)

Combined lipase deficiencyAR

Manifestation: Cardiovascular; Endocrine; Gastrointestinal

Intervention: Cardiovascular; Endocrine; Gastrointestinal

Rationale: Individuals may present with severe hypertryglceridemia, with findings including gastrointestinal manifestations (abdominal pain, emesis, recurrent pancreatitis, hepatosplenomegaly), as well as eruptive xanthomata and lipemia retinalis, and dietary measures (fat restriction) and medical treatment (eg, gemfibrozil, omega-3 fatty acid supplementation) can be beneficial; Individuals may also manifest with diabetes mellitus, which can benefit from standard treatment (and which may also help with other manifestations)

Refs: 17994020; 19820022Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to LMF1 variants in ClinVar

5 Conditions Cataloged
Cardiovascular phenotypeTotal: 558
not providedTotal: 328
not specifiedTotal: 67
LMF1-related disorderTotal: 65
Lipase deficiency, combinedTotal: 42

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022773.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
4
clinvar
227
clinvar
2
clinvar
 233
missense
4
clinvar
322
clinvar
49
clinvar
4
clinvar
 379
nonsense
5
clinvar
13
clinvar
1
clinvar
 19
start loss
0
frameshift
6
clinvar
7
clinvar
 13
splice donor/acceptor (+/-2bp)
1
clinvar
3
clinvar
3
clinvar
 7
Total12273302766651

Highest pathogenic variant AF is 0.000060750102

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_022773.4RefSeqNP_073610.211MANE Select
ENST00000262301.16EnsemblENSP00000262301.1211MANE Select
NM_001352017.2RefSeqNP_001338946.18Standard
NM_001352018.2RefSeqNP_001338947.19Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Transport of small molecules
  • Assembly of active LPL and LIPC lipase complexes
  • Plasma lipoprotein assembly, remodeling, and clearance
  • Plasma lipoprotein remodeling

Biological Process

  • triglyceride metabolic process
  • endoplasmic reticulum to Golgi vesicle-mediated transport
  • protein secretion
  • protein glycosylation in Golgi
  • chylomicron remnant clearance

Cellular Component

  • endoplasmic reticulum membrane
  • Golgi apparatus
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000262301
Coding exons
11
Length
127685
Individuals with no LoFs
124553
Homozygous LoFs
0
Heterozygous LoFs
113
Defined
124666
p
0.000453
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-1.794463511.270.00002253630
Missense (PolyPhen)170139.911.21511431
Synonymous-2.661941521.270.00001041140
Loss of Function0.4422527.50.9090.00000143259

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000460.00045rare
Latino/Admixed American0.000440.00043rare
Ashkenazi Jewish00.0absent
East Asian0.000670.00067rare
Finnish0.000150.00014rare
European (Non-Finnish)0.000450.00044rare
South Asian0.000690.00069rare
Other0.000910.00083rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
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. Each LMF1 molecule chaperones 50 or more molecules of LPL. {ECO:0000250|UniProtKB:Q3U3R4, ECO:0000269|PubMed:24909692}.;
Disease
DISEASE: Combined lipase deficiency (CLD) [MIM:246650]: 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). {ECO:0000269|PubMed:17994020}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.118

Intolerance Scores

LoFtool
0.865
RVIS EVS
1.23
RVIS percentile EVS
93.26

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.444

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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