LMF1

Summary

LMF1 (lipase maturation factor 1, HGNC:14154) is a protein-coding gene on chromosome 16p13.3, encoding Lipase maturation factor 1 (Q96S06). Involved in the maturation of specific proteins in the endoplasmic reticulum.

Involved in triglyceride metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency.

Source: NCBI Gene 64788 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lipase deficiency, combined (Strong, GenCC)
• GWAS associations: 24
• Clinical variants (ClinVar): 790 total — 17 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 7
• MANE Select transcript: NM_022773

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14154
Approved symbol	LMF1
Name	lipase maturation factor 1
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12681, JFP11, FLJ22302, TMEM112A
Ensembl gene	ENSG00000103227
Ensembl biotype	protein_coding
OMIM	611761
Entrez	64788

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 7 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000262301, ENST00000543238, ENST00000545827, ENST00000562226, ENST00000562380, ENST00000565198, ENST00000565276, ENST00000566609, ENST00000566627, ENST00000567595, ENST00000568268, ENST00000568897, ENST00000568964, ENST00000569516, ENST00000570014, ENST00000570168, ENST00000611669, ENST00000963976

RefSeq mRNA: 6 — MANE Select: NM_022773 NM_001352017, NM_001352018, NM_001352019, NM_001352020, NM_001352021, NM_022773

CCDS: CCDS45373, CCDS86488

Canonical transcript exons

ENST00000262301 — 11 exons

Exon	Start	End
ENSE00001649969	934244	934254
ENSE00002232906	853634	854706
ENSE00002599212	970788	970984
ENSE00003468451	879570	879737
ENSE00003470858	893007	893072
ENSE00003482828	871161	871341
ENSE00003513282	869883	870066
ENSE00003517741	870729	870882
ENSE00003541159	910931	911079
ENSE00003617359	868944	869056
ENSE00003650027	954357	954666

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 88.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9566 / max 132.9220, expressed in 1773 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155797	10.2226	1754
155800	7.2705	774
155796	2.4920	1318
155798	0.9146	241
155795	0.2419	87

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	88.78	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.56	gold quality
sural nerve	UBERON:0015488	88.55	gold quality
right lobe of thyroid gland	UBERON:0001119	88.37	gold quality
left lobe of thyroid gland	UBERON:0001120	87.94	gold quality
parotid gland	UBERON:0001831	87.28	gold quality
granulocyte	CL:0000094	87.25	gold quality
thyroid gland	UBERON:0002046	87.13	gold quality
spinal cord	UBERON:0002240	87.11	gold quality
body of pancreas	UBERON:0001150	86.57	gold quality
body of stomach	UBERON:0001161	86.32	gold quality
apex of heart	UBERON:0002098	86.32	gold quality
saliva-secreting gland	UBERON:0001044	86.27	gold quality
left ovary	UBERON:0002119	86.20	gold quality
minor salivary gland	UBERON:0001830	86.06	gold quality
corpus epididymis	UBERON:0004359	86.00	gold quality
right adrenal gland	UBERON:0001233	85.90	gold quality
right frontal lobe	UBERON:0002810	85.84	gold quality
right ovary	UBERON:0002118	85.76	gold quality
left adrenal gland cortex	UBERON:0035825	85.71	gold quality
stromal cell of endometrium	CL:0002255	85.70	gold quality
peripheral nervous system	UBERON:0000010	85.67	gold quality
tibial nerve	UBERON:0001323	85.67	gold quality
vena cava	UBERON:0004087	85.60	gold quality
left adrenal gland	UBERON:0001234	85.52	gold quality
endocervix	UBERON:0000458	85.47	gold quality
right adrenal gland cortex	UBERON:0035827	85.47	gold quality
skin of leg	UBERON:0001511	85.34	gold quality
right lobe of liver	UBERON:0001114	85.32	gold quality
left uterine tube	UBERON:0001303	85.23	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.47

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

36 targeting LMF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-143-5P	98.98	68.87	946
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-4741	97.69	64.14	883
HSA-MIR-4675	97.69	64.82	774
HSA-MIR-1271-3P	97.56	64.85	865
HSA-MIR-550A-3-5P	97.56	65.35	823
HSA-MIR-550A-5P	97.56	65.35	823
HSA-MIR-320E	97.49	65.96	865
HSA-MIR-411-5P	97.11	66.82	601

Literature-anchored findings (GeneRIF, showing 11)

• Results show that cotransfection of LPL with wild-type Lmf1 restores its ability to support normal lipase maturation. (PMID:19471043)
• Second novel pathogenic mutation in LMF1 gene in a patient with severe hypertriglyceridemia. (PMID:19820022)
• Thus we provide evidence for the critical role of the N-terminus of LMF1 for the maturation of LPL and relevant ratio of chaperone to substrate. (PMID:24909692)
• Our results suggest that LMF1 mutations are involved in a substantial proportion of cases with severe primary hypertriglyceridemia, putting together the moderate-aggressive effect of rare mutations with polymorphisms classically associated with this disease. (PMID:25817768)
• Triglyceride-raising variant alleles of the LMF1 encoding lipase maturation factor 1, associated with clinical Cardiovascular endpoints. (PMID:28534127)
• Compound heterozygous mutation of LMF1 gene is associated with Hypertriglyceridemia. (PMID:29910226)
• rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia (PMID:30037590)
• LMF1 is needed for secretion of some ER client proteins that require reduction of non-native disulfides during their folding. (PMID:30068531)
• A heterozygous LMF1 nonsense variant was found in a hypertriglyceridemia-acute pancreatitis patient with severe obesity and heavy smoking, highlighting an important interplay between genetic and lifestyle factors in the etiology of hypertriglyceridemia. (PMID:30885219)
• Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase Maturation Factor 1 (LMF1) concentration in children with chronic kidney disease. (PMID:34062067)
• Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador. (PMID:35246399)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	lmf1	ENSDARG00000102861
mus_musculus	Lmf1	ENSMUSG00000002279
rattus_norvegicus	Lmf1	ENSRNOG00000000230
caenorhabditis_elegans		WBGENE00019657

Paralogs (1): LMF2 (ENSG00000100258)

Protein

Protein identifiers

Lipase maturation factor 1 — Q96S06 (reviewed: Q96S06)

Alternative names: Transmembrane protein 112

All UniProt accessions (10): Q96S06, B4DFZ0, F5H802, H3BN37, H3BP58, H3BQC9, H3BQT4, H3BSB7, H3BUN8, H3BVI4

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with LPL and SEL1L.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. 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). The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the lipase maturation factor family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96S06-1	1	yes
Q96S06-2	2

RefSeq proteins (6): NP_001338946, NP_001338947, NP_001338948, NP_001338949, NP_001338950, NP_073610* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009613	LMF	Family
IPR057433	LMF1/2_C	Domain
IPR057434	LMF1/2_N	Domain

Pfam: PF06762, PF25179

UniProt features (20 total): topological domain 6, transmembrane region 5, sequence variant 4, sequence conflict 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96S06-F1	90.49	0.80

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8963889	Assembly of active LPL and LIPC lipase complexes
R-HSA-174824	Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551	Transport of small molecules
R-HSA-8963899	Plasma lipoprotein remodeling

MSigDB gene sets: 152 (showing top): GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_PLASMA_LIPOPROTEIN_PARTICLE_CLEARANCE, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_SECRETION, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (8): triglyceride metabolic process (GO:0006641), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein secretion (GO:0009306), chylomicron remnant clearance (GO:0034382), protein maturation (GO:0051604), regulation of cholesterol metabolic process (GO:0090181), regulation of triglyceride metabolic process (GO:0090207), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (0):

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Plasma lipoprotein remodeling	1
Transport of small molecules	1
Plasma lipoprotein assembly, remodeling, and clearance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
acylglycerol metabolic process	1
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
protein transport	1
secretion by cell	1
establishment of protein localization to extracellular region	1
protein localization to extracellular region	1
triglyceride-rich lipoprotein particle clearance	1
gene expression	1
protein metabolic process	1
cholesterol metabolic process	1
regulation of steroid metabolic process	1
regulation of small molecule metabolic process	1
triglyceride metabolic process	1
regulation of lipid metabolic process	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

618 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LMF1	APOC2	P02655	929
LMF1	LPL	P06858	916
LMF1	LIPC	P11150	903
LMF1	GPIHBP1	Q8IV16	894
LMF1	APOA5	Q6Q788	881
LMF1	APOC3	P02656	648
LMF1	ANGPTL3	Q9Y5C1	646
LMF1	GPD1	P21695	624
LMF1	CANX	P27824	620
LMF1	SEL1L	Q9UBV2	612
LMF1	LIPG	Q9Y5X9	573
LMF1	CREB3L3	Q68CJ9	553
LMF1	APOB	P04114	527
LMF1	ANGPTL4	Q9BY76	523
LMF1	LDLRAP1	Q5SW96	513

IntAct

40 interactions, top by confidence:

A	B	Type	Score
ITGB8	GET1	psi-mi:“MI:0914”(association)	0.530
DCT	CANX	psi-mi:“MI:0914”(association)	0.530
ADAM18	WDR27	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CHRNB4	GPR89A	psi-mi:“MI:0914”(association)	0.350
TRAV20	MAP2K7	psi-mi:“MI:0914”(association)	0.350
CD3D	CLGN	psi-mi:“MI:0914”(association)	0.350
UGT1A7	FGFR1	psi-mi:“MI:0914”(association)	0.350
SEZ6	METAP2	psi-mi:“MI:0914”(association)	0.350
NXPE2	PGAP1	psi-mi:“MI:0914”(association)	0.350
GP9	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLEC4E	ESYT2	psi-mi:“MI:0914”(association)	0.350
ITGB8	TARS3	psi-mi:“MI:0914”(association)	0.350
HLA-C	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HLA-G	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SLC22A9	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HS2ST1	DENND11	psi-mi:“MI:0914”(association)	0.350
CHST8	NDUFS8	psi-mi:“MI:0914”(association)	0.350
BRINP2	MANBA	psi-mi:“MI:0914”(association)	0.350
NXPH3	ACACB	psi-mi:“MI:0914”(association)	0.350
CLEC2B	ADAM10	psi-mi:“MI:0914”(association)	0.350
TMPRSS11B	SCAMP3	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	BCKDK	psi-mi:“MI:0914”(association)	0.350
GP5	MGST3	psi-mi:“MI:0914”(association)	0.350
LYZL6	CLGN	psi-mi:“MI:0914”(association)	0.350
SPRING1	CLGN	psi-mi:“MI:0914”(association)	0.350
A4GNT	CLGN	psi-mi:“MI:0914”(association)	0.350
GCNT2	CLGN	psi-mi:“MI:0914”(association)	0.350

BioGRID (60): LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), LMF1 (Affinity Capture-MS)

ESM2 similar proteins: A1A5B4, A2RRU4, A6NDV4, A6QLK4, A6QM06, B1AWJ5, D3ZEH5, D3ZXD8, O42224, O94759, O97583, P52849, P52850, P56726, P97260, P97698, Q04671, Q0P5C0, Q12770, Q2YDG0, Q32PF0, Q3UMR5, Q4R7X9, Q5FVJ6, Q5R6K5, Q5U239, Q60HE8, Q6GQT6, Q6IEE7, Q6NW40, Q6P988, Q6UX01, Q6ZN54, Q7RTT9, Q7TQ33, Q8CIF6, Q8NBJ9, Q8R139, Q8TCT7, Q920N2

Diamond homologs: A1L1J9, A1L504, Q0P4Y8, Q5ZKZ9, Q7ZWN0, Q8C3X8, Q96S06, Q9BU23, Q0P5C0, Q3U3R4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

790 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	8
Uncertain significance	322
Likely benign	304
Benign	71

Top pathogenic / likely-pathogenic (25)

Variant ID	HGVS	Classification
1334397	NM_022773.4(LMF1):c.1079-2A>C	Pathogenic
143993	NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)	Pathogenic
1675593	NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)	Pathogenic
2426772	NC_000016.9:g.(?1004337)(1004686_?)del	Pathogenic
2426773	NC_000016.9:g.(?960911)(961099_?)del	Pathogenic
2789167	NM_022773.4(LMF1):c.149G>A (p.Trp50Ter)	Pathogenic
2961040	NM_022773.4(LMF1):c.244_245del (p.Arg82fs)	Pathogenic
3011463	NM_022773.4(LMF1):c.510_513del (p.Phe171fs)	Pathogenic
3227807	NM_022773.4(LMF1):c.157del (p.Arg53fs)	Pathogenic
3609264	NM_022773.4(LMF1):c.789_796dup (p.Glu266fs)	Pathogenic
3645095	NM_022773.4(LMF1):c.946_947del (p.Met316fs)	Pathogenic
3682280	NM_022773.4(LMF1):c.264_265del (p.Arg88fs)	Pathogenic
4075909	GRCh37/hg19 16p13.3(chr16:897566-958827)x1	Pathogenic
4703175	NM_022773.4(LMF1):c.1261dup (p.Leu421fs)	Pathogenic
4748684	NM_022773.4(LMF1):c.572G>A (p.Trp191Ter)	Pathogenic
792	NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter)	Pathogenic
915345	NM_022773.4(LMF1):c.291C>G (p.Tyr97Ter)	Pathogenic
1399714	NM_022773.4(LMF1):c.514G>A (p.Gly172Arg)	Likely pathogenic
1677682	NM_022773.4(LMF1):c.465G>A (p.Trp155Ter)	Likely pathogenic
1677693	NM_022773.4(LMF1):c.1022_1023insT (p.Arg342fs)	Likely pathogenic
1677919	NM_022773.4(LMF1):c.1374C>A (p.Tyr458Ter)	Likely pathogenic
1767730	NM_022773.4(LMF1):c.966del (p.Phe323fs)	Likely pathogenic
2633536	NM_022773.4(LMF1):c.68C>A (p.Ser23Ter)	Likely pathogenic
2910386	NM_022773.4(LMF1):c.410C>T (p.Ser137Leu)	Likely pathogenic
3391618	NM_022773.4(LMF1):c.1530-2A>G	Likely pathogenic

SpliceAI

4472 predictions. Top by Δscore:

Variant	Effect	Δscore
16:871159:A:AC	donor_gain	1.0000
16:871160:C:CC	donor_gain	1.0000
16:879565:CTCA:C	donor_loss	1.0000
16:879566:TCA:T	donor_loss	1.0000
16:879567:CACC:C	donor_loss	1.0000
16:879568:A:C	donor_loss	1.0000
16:879569:CCTG:C	donor_loss	1.0000
16:893001:GCTCA:G	donor_loss	1.0000
16:893002:CTCA:C	donor_loss	1.0000
16:893003:TCA:T	donor_loss	1.0000
16:893004:CA:C	donor_loss	1.0000
16:893005:ACC:A	donor_loss	1.0000
16:893006:C:CT	donor_loss	1.0000
16:893068:AGGCC:A	acceptor_gain	1.0000
16:893069:GGCC:G	acceptor_gain	1.0000
16:893070:GCC:G	acceptor_gain	1.0000
16:893071:CC:C	acceptor_gain	1.0000
16:893071:CCC:C	acceptor_gain	1.0000
16:893072:CC:C	acceptor_gain	1.0000
16:893072:CCTGC:C	acceptor_loss	1.0000
16:893073:C:CC	acceptor_gain	1.0000
16:893074:T:A	acceptor_loss	1.0000
16:893076:C:CT	acceptor_gain	1.0000
16:910929:A:AC	donor_gain	1.0000
16:910930:C:CA	donor_gain	1.0000
16:910930:CTG:C	donor_gain	1.0000
16:910930:CTGCT:C	donor_gain	1.0000
16:934255:C:CC	acceptor_gain	1.0000
16:954662:CACGA:C	acceptor_gain	1.0000
16:954664:CGA:C	acceptor_gain	1.0000

AlphaMissense

3698 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:870824:G:C	S379R	0.997
16:870824:G:T	S379R	0.997
16:870826:T:G	S379R	0.997
16:910960:A:G	W212R	0.997
16:910960:A:T	W212R	0.997
16:911058:T:A	E179V	0.997
16:911053:C:A	G181W	0.995
16:911053:C:G	G181R	0.994
16:911053:C:T	G181R	0.994
16:954397:A:G	W155R	0.994
16:954397:A:T	W155R	0.994
16:870734:G:C	F409L	0.993
16:870734:G:T	F409L	0.993
16:870736:A:G	F409L	0.993
16:871312:G:C	S309R	0.993
16:871312:G:T	S309R	0.993
16:871314:T:G	S309R	0.993
16:910947:C:A	R216M	0.993
16:911052:C:T	G181E	0.992
16:911059:C:T	E179K	0.992
16:911077:A:G	W173R	0.992
16:911077:A:T	W173R	0.992
16:871282:G:C	S319R	0.991
16:871282:G:T	S319R	0.991
16:871284:T:G	S319R	0.991
16:910947:C:G	R216T	0.991
16:911057:C:A	E179D	0.991
16:911057:C:G	E179D	0.991
16:911073:T:A	E174V	0.991
16:871309:G:C	F310L	0.990

dbSNP variants (sampled 300 via entrez): RS1000048071 (16:914297 A>C,G), RS1000052884 (16:882108 T>C), RS1000055437 (16:924170 G>A,T), RS1000058485 (16:962216 C>T), RS1000060625 (16:920768 A>C), RS1000082145 (16:917288 G>A,C), RS1000108787 (16:889344 G>A,C), RS1000114703 (16:977815 C>T), RS1000125841 (16:916391 C>G), RS1000164107 (16:964099 C>A), RS1000167242 (16:886053 G>C), RS1000213609 (16:957906 G>A), RS1000214774 (16:939936 G>A,C), RS1000234114 (16:917469 C>T), RS1000238706 (16:957213 T>A,C)

Disease associations

OMIM: gene MIM:611761 | disease phenotypes: MIM:246650

GenCC curated gene-disease

Disease	Classification	Inheritance
lipase deficiency, combined	Strong	Autosomal recessive

Mondo (1): lipase deficiency, combined (MONDO:0009527)

Orphanet (1): Familial lipase maturation factor 1 deficiency (Orphanet:535453)

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001733	Pancreatitis
HP:0002155	Hypertriglyceridemia
HP:0005978	Type II diabetes mellitus
HP:0009125	Lipodystrophy
HP:0011462	Young adult onset
HP:0031290	Tuberous xanthoma

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST001873_8	Red blood cell traits	4.000000e-22
GCST002741_1	Polycystic ovary syndrome	6.000000e-06
GCST004347_6	Glioma	9.000000e-10
GCST004348_1	Non-glioblastoma glioma	3.000000e-09
GCST004349_13	Glioblastoma	6.000000e-06
GCST007005_8	Logical memory (immediate recall) in normal cognition	3.000000e-07
GCST007470_18	Rapid automatized naming of letters	9.000000e-06
GCST010173_162	Triglyceride levels	2.000000e-08
GCST010244_141	Triglyceride levels	9.000000e-13
GCST010244_356	Triglyceride levels	4.000000e-08
GCST010796_1701	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_1842	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_1843	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_1844	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_1845	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_1846	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1847	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_1848	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_1849	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-09
GCST010796_1850	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST90000025_246	Appendicular lean mass	1.000000e-14
GCST90002390_647	Mean corpuscular hemoglobin	1.000000e-15
GCST90002392_492	Mean corpuscular volume	3.000000e-15
GCST90020029_557	Waist circumference adjusted for body mass index	4.000000e-09

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0005301	reading and spelling ability
EFO:0004530	triglyceride measurement
EFO:0004327	electrocardiography
EFO:0004980	appendicular lean mass
EFO:0004527	mean corpuscular hemoglobin
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535904	Lipase deficiency combined (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	6
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	4
Aflatoxin B1	decreases expression, affects methylation	3
trichostatin A	increases expression	2
Vorinostat	increases expression, affects cotreatment	2
Arsenic	affects expression, affects methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance, increases methylation	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	decreases methylation	1
ferrous chloride	decreases expression	1
aflatoxin B2	decreases methylation	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Irinotecan	affects cotreatment, increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Panobinostat	increases expression	1
Air Pollutants	affects methylation, increases abundance	1
Aldehydes	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance, increases methylation	1
Doxorubicin	decreases expression	1
Fluorouracil	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.