Lipase maturation factor 1

LMF1
Identifiers
Aliases	LMF1, C16orf26, HMFN1876, JFP11, TMEM112, TMEM112A, lipase maturation factor 1
External IDs	OMIM: 611761; MGI: 1923733; GeneCards: LMF1
Gene location (Human)
Chr.	Chromosome 16 (human)
End	981,318 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	25,881,800 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; C1 segment; ; sural nerve; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; parotid gland; ; granulocyte; ; body of pancreas; ; body of stomach; ; apex of heart;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; right kidney; ; parotid gland; ; left lobe of liver; ; lactiferous gland; ; yolk sac; ; interventricular septum; ; muscle of thigh;
	More reference expression data
	; ; ; ;
	More reference expression data
Orthologs
Databases	NCBI: entry; OMA: entry
	64788
	76483
	ENSG00000103227
	ENSMUSG00000002279
	Q96S06
	Q3U3R4
NM_001352017; NM_001352018; NM_001352019; NM_001352020; NM_001352021;
	NM_022773
	NM_029624
NP_073610; NP_001338946; NP_001338947; NP_001338948; NP_001338949;
	NP_001338950
	NP_083900
	Wikidata
View/Edit Human	View/Edit Mouse

Lipase maturation factor 1 is an enzyme that in humans is encoded by the LMF1 gene. This protein is involved in the maturation and transport of lipoprotein lipase. 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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000103227 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000002279 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ "Entrez Gene: TMEM112 transmembrane protein 112".
↑ "Q96S06 · LMF1_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-02.
↑ "Lipase Deficiency, Combined (CLD)". malacards.org. LifeMap Sciences. Retrieved 2026-08-02.

Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Yamada S, Ohira M, Horie H, et al. (2004). "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas". Oncogene. 23 (35): 5901–5911. doi:10.1038/sj.onc.1207782. PMID 15221005. S2CID 3114318.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5′-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000103227 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11157797-5] 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.

[pmid17994020-6] 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.

[entrez-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.

Lipase maturation factor 1

References

Further reading