LHFPL1 explained

Lipoma HMGIC fusion partner-like 1 protein is a protein that in humans is encoded by the LHFPL1 gene.^{[1] [2]}

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.^[2]

Further reading

• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
• Longo-Guess CM, Gagnon LH, Cook SA, etal . A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice . Proc. Natl. Acad. Sci. U.S.A. . 102 . 22 . 7894–9 . 2005 . 15905332 . 10.1073/pnas.0500760102 . 1142366 . 2005PNAS..102.7894L . free .
• Huang C, Guo J, Liu S, etal . Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1 . DNA Seq. . 15 . 4 . 299–302 . 2005 . 15620218 . 10.1080/10425170412331279620. 22859348 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Clark HF, Gurney AL, Abaya E, etal . The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment . Genome Res. . 13 . 10 . 2265–70 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Hillier LD, Lennon G, Becker M, etal . Generation and analysis of 280,000 human expressed sequence tags . Genome Res. . 6 . 9 . 807–28 . 1997 . 8889549 . 10.1101/gr.6.9.807 . free .

Notes and References

1. Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ . LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes . Genomics . 57 . 3 . 438–41 . Aug 1999 . 10329012 . 10.1006/geno.1999.5778 .
2. Web site: Entrez Gene: LHFPL1 lipoma HMGIC fusion partner-like 1.