LHFPL3
| LHFPL3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LHFPL3, LHFPL4, lipoma HMGIC fusion partner-like 3, LHFPL tetraspan subfamily member 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609719; MGI: 1925076; GeneCards: LHFPL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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LHFPL tetraspan subfamily member 3 is a protein that in humans is encoded by the LHFPL3 gene.[5]
Function
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. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000187416 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000106379 – 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.
- ^ "Entrez Gene: LHFPL tetraspan subfamily member 3". Retrieved 2018-01-30.
Further reading
- Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR (2005). "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. Bibcode:2005PNAS..102.7894L. doi:10.1073/pnas.0500760102. PMC 1142366. PMID 15905332.
- Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP (2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility". Mol. Psychiatry. 15 (9): 954–68. doi:10.1038/mp.2009.34. PMC 2934739. PMID 19401682.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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