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Aliases for LMF1 Gene

Aliases for LMF1 Gene

  • Lipase Maturation Factor 1 2 3 3 5
  • Transmembrane Protein 112 2 3 4
  • C16orf26 3 4
  • TMEM112 3 4
  • Chromosome 16 Open Reading Frame 26 2
  • HMFN1876 3
  • TMEM112A 3
  • JFP11 3

External Ids for LMF1 Gene

Previous HGNC Symbols for LMF1 Gene

  • C16orf26
  • TMEM112

Previous GeneCards Identifiers for LMF1 Gene

  • GC16M000845
  • GC16M000903
  • GC16M000828

Summaries for LMF1 Gene

Entrez Gene Summary for LMF1 Gene

  • The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for LMF1 Gene

LMF1 (Lipase Maturation Factor 1) is a Protein Coding gene. Diseases associated with LMF1 include Lipase Deficiency, Combined and Familial Lipoprotein Lipase Deficiency. Among its related pathways are Lipoprotein metabolism and Metabolism. An important paralog of this gene is LMF2.

UniProtKB/Swiss-Prot for LMF1 Gene

  • 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.

Gene Wiki entry for LMF1 Gene

Additional gene information for LMF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMF1 Gene

Genomics for LMF1 Gene

GeneHancer (GH) Regulatory Elements for LMF1 Gene

Promoters and enhancers for LMF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J000980 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 665 -0.1 -83 1.6 ZNF493 ZNF133 SIN3A GLI4 ZNF2 GLIS2 ZNF213 ZNF416 KLF7 ZNF548 ENSG00000260807 LMF1 SOX8 GC16M000980 GC16M000982 GC16P001016 WDR90 CRAMP1 ENSG00000261505 UBE2I
GH16J000982 Enhancer 0.5 dbSUPER 664.7 -1.7 -1671 0.9 SUZ12 ZNF10 SCRT2 KLF8 EZH2 ENSG00000260807 LMF1 GC16M000980 SOX8 GC16M000982 LOC102723964
GH16J000981 Enhancer 0.4 dbSUPER 650.7 +1.2 1155 0.1 ZBTB6 EZH2 ENSG00000260807 GC16P001016 SOX8 LMF1 GC16M000982 GC16M000980 ENSG00000276931
GH16J000979 Enhancer 0.3 dbSUPER 650.7 +1.6 1559 0.3 ZBTB6 LMF1 GC16P001016 GC16M000982 GC16M000980 ENSG00000260807 LMF1-AS1 ENSG00000276931
GH16J001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.3 -329.4 -329436 5.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 UBE2I LOC102723815 WDR90 CRAMP1 ENSG00000261505 TELO2 ENSG00000260051 E4F1 TSC2 IFT140
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LMF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LMF1 gene promoter:
  • SRY
  • Hand1
  • E47
  • AP-2gamma
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • S8
  • MIF-1

Genomic Locations for LMF1 Gene

Genomic Locations for LMF1 Gene
chr16:853,634-981,318
(GRCh38/hg38)
Size:
127,685 bases
Orientation:
Minus strand
chr16:903,634-1,031,318
(GRCh37/hg19)
Size:
127,685 bases
Orientation:
Minus strand

Genomic View for LMF1 Gene

Genes around LMF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMF1 Gene

Proteins for LMF1 Gene

  • Protein details for LMF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S06-LMF1_HUMAN
    Recommended name:
    Lipase maturation factor 1
    Protein Accession:
    Q96S06
    Secondary Accessions:
    • B3KS80
    • Q68CJ3
    • Q96FJ4
    • Q9H6G4
    • Q9H9K7

    Protein attributes for LMF1 Gene

    Size:
    567 amino acids
    Molecular mass:
    64873 Da
    Quaternary structure:
    • Interacts with LPL and SEL1L.
    SequenceCaution:
    • Sequence=BAB15295.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LMF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMF1 Gene

Post-translational modifications for LMF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LMF1 Gene

Domains & Families for LMF1 Gene

Gene Families for LMF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for LMF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LMF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96S06

UniProtKB/Swiss-Prot:

LMF1_HUMAN :
  • Belongs to the lipase maturation factor family.
Family:
  • Belongs to the lipase maturation factor family.
genes like me logo Genes that share domains with LMF1: view

Function for LMF1 Gene

Molecular function for LMF1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for LMF1 Gene

genes like me logo Genes that share phenotypes with LMF1: view

Human Phenotype Ontology for LMF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for LMF1

miRNA for LMF1 Gene

miRTarBase miRNAs that target LMF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for LMF1 Gene

Localization for LMF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMF1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMF1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
peroxisome 2
golgi apparatus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for LMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LMF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMF1 Gene

Pathways & Interactions for LMF1 Gene

genes like me logo Genes that share pathways with LMF1: view

Gene Ontology (GO) - Biological Process for LMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006641 triglyceride metabolic process IMP 17994020
GO:0006888 ER to Golgi vesicle-mediated transport IEA --
GO:0009306 protein secretion IEA --
GO:0033578 protein glycosylation in Golgi IEA --
GO:0034382 chylomicron remnant clearance IEA --
genes like me logo Genes that share ontologies with LMF1: view

No data available for SIGNOR curated interactions for LMF1 Gene

Drugs & Compounds for LMF1 Gene

No Compound Related Data Available

Transcripts for LMF1 Gene

Unigene Clusters for LMF1 Gene

Lipase maturation factor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LMF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - - - - - - - - -
SP2: - - - - -
SP3: - - - - - - - - - - - - -
SP4: - -
SP5: -
SP6: - - -
SP7: - - -
SP8: -
SP9: - -
SP10: - -
SP11:
SP12:

Relevant External Links for LMF1 Gene

GeneLoc Exon Structure for
LMF1
ECgene alternative splicing isoforms for
LMF1

Expression for LMF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LMF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LMF1 Gene

This gene is overexpressed in Adrenal (10.0), Testis (9.8), Pancreas (8.4), and Islet of Langerhans (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LMF1 Gene



Protein tissue co-expression partners for LMF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LMF1 Gene:

LMF1

SOURCE GeneReport for Unigene cluster for LMF1 Gene:

Hs.71912

Evidence on tissue expression from TISSUES for LMF1 Gene

  • Kidney(4.3)
  • Pancreas(4.2)
  • Nervous system(4.2)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LMF1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LMF1 Gene

Orthologs for LMF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMF1 34 33
  • 98.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LMF1 34 33
  • 82.95 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LMF1 34 33
  • 81.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmf1 33
  • 79.86 (n)
mouse
(Mus musculus)
Mammalia Lmf1 16 34 33
  • 79.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LMF1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMF1 34 33
  • 74.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMF1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmf1 33
  • 67.86 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01073168.1 34
  • 69 (a)
OneToOne
LOC100333693 33
  • 65.77 (n)
worm
(Caenorhabditis elegans)
Secernentea K11G12.6 34
  • 20 (a)
OneToMany
Species where no ortholog for LMF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMF1 Gene

ENSEMBL:
Gene Tree for LMF1 (if available)
TreeFam:
Gene Tree for LMF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LMF1: view image

Paralogs for LMF1 Gene

Paralogs for LMF1 Gene

genes like me logo Genes that share paralogs with LMF1: view

Variants for LMF1 Gene

Sequence variations from dbSNP and Humsavar for LMF1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs121909397 pathogenic, Lipase deficiency combined 869,982(-) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs587777626 pathogenic, Lipase deficiency combined 869,908(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs192520307 benign, not specified 871,187(-) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000048071 -- 914,297(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000052884 -- 882,108(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for LMF1 Gene

Variant ID Type Subtype PubMed ID
esv1450859 CNV insertion 17803354
esv1454326 CNV insertion 17803354
esv1435391 CNV insertion 17803354
esv1426273 CNV insertion 17803354
esv1349427 CNV insertion 17803354
esv1335310 CNV deletion 17803354
esv1287045 CNV deletion 17803354
esv1270715 CNV deletion 17803354
esv1257169 CNV deletion 17803354
esv1213288 CNV insertion 17803354
esv1205211 CNV insertion 17803354
esv1180581 CNV deletion 17803354
esv1159146 CNV insertion 17803354
esv1151031 CNV deletion 17803354
esv1117925 CNV insertion 17803354
esv1011363 CNV deletion 20482838
esv1003091 CNV deletion 20482838
dgv776e212 CNV loss 25503493
dgv775e212 CNV loss 25503493
dgv774e212 CNV gain 25503493
dgv773e212 CNV loss 25503493
dgv4838n54 CNV gain 21841781
dgv4837n54 CNV loss 21841781
dgv4836n54 CNV gain+loss 21841781
dgv4835n54 CNV gain 21841781
dgv4834n54 CNV loss 21841781
dgv4833n54 CNV gain 21841781
dgv4832n54 CNV loss 21841781
dgv474e199 CNV deletion 23128226
dgv320e201 CNV deletion 23290073
dgv319e201 CNV deletion 23290073
dgv318e201 CNV deletion 23290073
dgv317e201 CNV deletion 23290073
dgv1481e59 CNV duplication 20981092
dgv1480e59 CNV duplication 20981092
dgv1284n106 CNV duplication 24896259
nsv954515 CNV deletion 24416366
nsv952898 CNV deletion 24416366
nsv9328 CNV gain+loss 18304495
nsv9327 CNV loss 18304495
nsv9326 CNV loss 18304495
nsv833116 CNV loss 17160897
nsv821033 CNV duplication 20802225
nsv820864 CNV deletion 20802225
nsv820488 CNV duplication 20802225
nsv571078 CNV loss 21841781
nsv571061 CNV gain 21841781
nsv571060 CNV gain 21841781
nsv571059 CNV loss 21841781
nsv571055 CNV gain 21841781
nsv571054 CNV gain+loss 21841781
nsv571051 CNV gain 21841781
nsv571050 CNV loss 21841781
nsv571049 CNV loss 21841781
nsv571048 CNV loss 21841781
nsv571047 CNV loss 21841781
nsv571046 CNV gain 21841781
nsv523227 CNV gain 19592680
nsv512418 CNV loss 21212237
nsv473818 CNV novel sequence insertion 20440878
nsv471853 CNV novel sequence insertion 20440878
nsv471066 CNV loss 18288195
nsv457319 CNV loss 19166990
nsv457317 CNV loss 19166990
nsv457316 CNV loss 19166990
nsv457315 CNV gain 19166990
nsv428316 CNV gain+loss 18775914
nsv1706 CNV insertion 18451855
nsv1705 CNV insertion 18451855
nsv1704 CNV insertion 18451855
nsv1152921 CNV duplication 26484159
nsv1152920 CNV insertion 26484159
nsv1151196 CNV insertion 26484159
nsv1147532 CNV deletion 26484159
nsv1146299 CNV duplication 26484159
nsv1144749 CNV deletion 24896259
nsv1142871 CNV tandem duplication 24896259
nsv1142186 CNV tandem duplication 24896259
nsv1115488 CNV duplication 24896259
nsv1115487 CNV duplication 24896259
nsv1112284 CNV deletion 24896259
nsv1110262 CNV duplication 24896259
nsv1110261 CNV duplication 24896259
nsv1048964 CNV loss 25217958
nsv1046349 CNV loss 25217958
nsv1042868 CNV loss 25217958
nsv103789 CNV insertion 16902084
nsv103751 CNV deletion 16902084
nsv103556 CNV deletion 16902084
nsv103501 CNV deletion 16902084
nsv103466 CNV deletion 16902084
nsv103465 CNV insertion 16902084
esv999223 CNV deletion 20482838
esv996453 CNV insertion 20482838
esv8383 CNV loss 19470904
esv3733 CNV loss 18987735
esv3637599 CNV loss 21293372
esv3637598 CNV loss 21293372
esv3637595 CNV loss 21293372
esv3637587 CNV gain 21293372
esv3637586 CNV loss 21293372
esv3581922 CNV loss 25503493
esv3581920 CNV loss 25503493
esv3581918 CNV loss 25503493
esv3581917 CNV loss 25503493
esv3581914 CNV loss 25503493
esv3581911 CNV loss 25503493
esv3552984 CNV deletion 23714750
esv3552983 CNV deletion 23714750
esv3552981 CNV deletion 23714750
esv3405252 CNV duplication 20981092
esv33870 CNV loss 17666407
esv3353063 CNV duplication 20981092
esv2750280 CNV deletion 23290073
esv2750279 CNV deletion 23290073
esv2750278 CNV deletion 23290073
esv2750277 CNV deletion 23290073
esv2750276 CNV deletion 23290073
esv2750275 CNV deletion 23290073
esv2750273 CNV deletion 23290073
esv2750267 CNV deletion 23290073
esv2750266 CNV deletion 23290073
esv2750265 CNV deletion 23290073
esv2750264 CNV deletion 23290073
esv2750262 CNV deletion 23290073
esv2750261 CNV deletion 23290073
esv2750260 CNV deletion 23290073
esv2750259 CNV deletion 23290073
esv2750258 CNV deletion 23290073
esv2750257 CNV deletion 23290073
esv2750256 CNV deletion 23290073
esv2750255 CNV deletion 23290073
esv2750254 CNV deletion 23290073
esv2750253 CNV deletion 23290073
esv2750250 CNV deletion 23290073
esv2750249 CNV deletion 23290073
esv2750248 CNV deletion 23290073
esv2750247 CNV deletion 23290073
esv2750246 CNV deletion 23290073
esv2750245 CNV deletion 23290073
esv2750244 CNV deletion 23290073
esv2750243 CNV deletion 23290073
esv2750242 CNV deletion 23290073
esv2674398 CNV deletion 23128226
esv2670350 CNV deletion 23128226
esv2666769 CNV deletion 23128226
esv2661544 CNV deletion 23128226
esv2661045 CNV deletion 23128226
esv2659242 CNV deletion 23128226
esv2657959 CNV deletion 23128226
esv26288 CNV loss 19812545
esv2619578 CNV deletion 19546169
esv25994 CNV gain+loss 19812545
esv25730 CNV gain+loss 19812545
esv25389 CNV loss 19812545
esv2530165 CNV deletion 19546169
esv2469718 CNV deletion 19546169
esv2422427 CNV duplication 17116639
esv24049 CNV loss 19812545
esv2373372 CNV deletion 18987734
esv22962 CNV gain+loss 19812545
esv2252142 CNV deletion 18987734
esv1770051 CNV deletion 17803354
esv1765705 CNV deletion 17803354
esv1668126 CNV insertion 17803354
esv1603029 CNV deletion 17803354
esv1581035 CNV deletion 17803354
esv1557013 CNV deletion 17803354
esv1552882 CNV deletion 17803354

Variation tolerance for LMF1 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.27; 81.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMF1 Gene

Human Gene Mutation Database (HGMD)
LMF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMF1 Gene

Disorders for LMF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LMF1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lipase deficiency, combined
  • lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
familial lipoprotein lipase deficiency
  • lipoprotein lipase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search LMF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LMF1_HUMAN
  • 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.

Additional Disease Information for LMF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LMF1: view

No data available for Genatlas for LMF1 Gene

Publications for LMF1 Gene

  1. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. (PMID: 17994020) Péterfy M … Doolittle MH (Nature genetics 2007) 2 3 4 58
  2. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 2 3 4 58
  3. Purification, cellular levels, and functional domains of lipase maturation factor 1. (PMID: 24909692) Babilonia-Rosa MA … Neher SB (Biochemical and biophysical research communications 2014) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Lipase maturation factor LMF1, membrane topology and interaction with lipase proteins in the endoplasmic reticulum. (PMID: 19783858) Doolittle MH … Péterfy M (The Journal of biological chemistry 2009) 3 4 58

Products for LMF1 Gene

Sources for LMF1 Gene

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