LMF1

Chr 16p13.3

lipase maturation factor 1

Aliases:: FLJ12681, JFP11, FLJ22302, TMEM112A
MANE:: ENST00000262301.16

OMIM: 611761 ↗NCBI: 64788 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LMF1 · Q96S06

v62025-08-01

Predicted Aligned Error matrix for LMF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.0/ 100

Very high

567 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)12%
Low(50–70)2%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial chylomicronaemia syndrome (FCS)
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Severe hypertriglyceridaemia
BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia

Disease associations (Open Targets)

Hyperlipoproteinemia type 1
0.72
Abnormality of the cardiovascular system
0.52
mathematical ability
0.29
heart failure
0.29
glioma
0.15
central nervous system cancer
0.15
myocardial ischemia
0.15
retinitis pigmentosa
0.11
Progressive cone dystrophy
0.09
Cone rod dystrophy
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lipase maturation factor 1

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