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Lipase maturation factor 1

From Wikipedia, the free encyclopedia
(Redirected from LMF1)

LMF1
Identifiers
AliasesLMF1, C16orf26, HMFN1876, JFP11, TMEM112, TMEM112A, lipase maturation factor 1
External IDsOMIM: 611761; MGI: 1923733; GeneCards: LMF1
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_029624

RefSeq (protein)

NP_083900

Location (UCSC)Chr 16: 0.85 – 0.98 MbChr 17: 25.8 – 25.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lipase maturation factor 1 is an enzyme that in humans is encoded by the LMF1 gene.[5][6][7] This protein is involved in the maturation and transport of lipoprotein lipase.[8] Pathogenic variants in this gene have been associated with a disorder called Combined Lipase Deficiency, which involves reduced lipoprotein lipase and hepatic lipase activity leading to excessive accumulation of fat and chylomicrons in the blood.[9]

References

[edit]
  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000103227 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000002279 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR (Feb 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum Mol Genet. 10 (4): 339–352. doi:10.1093/hmg/10.4.339. PMID 11157797.
  6. ↑ Peterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH (Nov 2007). "Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia". Nat Genet. 39 (12): 1483–1487. doi:10.1038/ng.2007.24. PMID 17994020. S2CID 22277452.
  7. ↑ "Entrez Gene: TMEM112 transmembrane protein 112".
  8. ↑ "Q96S06 · LMF1_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-02.
  9. ↑ "Lipase Deficiency, Combined (CLD)". malacards.org. LifeMap Sciences. Retrieved 2026-08-02.

Further reading

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