LIPH
Lipase member H is an enzyme that in humans is encoded by the LIPH gene.[5][6][7]
LIPH | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||
Aliases | LIPH, AH, ARWH2, HYPT7, LAH2, LPDLR, PLA1B, mPA-PLA1, lipase H | ||||||||||||||||||||||||
External IDs | OMIM: 607365 MGI: 2388029 HomoloGene: 71802 GeneCards: LIPH | ||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr 3: 185.51 – 185.55 Mb | Chr 16: 21.95 – 22 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
|
This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility.[7]
References
- GRCh38: Ensembl release 89: ENSG00000163898 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000044626 - 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.
- Jin W, Broedl UC, Monajemi H, Glick JM, Rader DJ (Sep 2002). "Lipase H, a new member of the triglyceride lipase family synthesized by the intestine". Genomics. 80 (3): 268–73. doi:10.1006/geno.2002.6837. PMID 12213196.
- Sonoda H, Aoki J, Hiramatsu T, Ishida M, Bandoh K, Nagai Y, Taguchi R, Inoue K, Arai H (Sep 2002). "A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid". J Biol Chem. 277 (37): 34254–63. doi:10.1074/jbc.M201659200. PMID 12063250.
- "Entrez Gene: LIPH lipase, member H".
Further reading
- 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): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Wen XY, Hegele RA, Wang J, et al. (2004). "Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans". Hum. Mol. Genet. 12 (10): 1131–43. doi:10.1093/hmg/ddg124. PMID 12719377.
- Hiramatsu T, Sonoda H, Takanezawa Y, et al. (2004). "Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta". J. Biol. Chem. 278 (49): 49438–47. doi:10.1074/jbc.M213018200. PMID 12963729.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- 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): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Aslam M, Chahrour MH, Razzaq A, et al. (2005). "A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33–q27.3". J. Med. Genet. 41 (11): 849–52. doi:10.1136/jmg.2004.019729. PMC 1735610. PMID 15520410.
- Kazantseva A, Goltsov A, Zinchenko R, et al. (2006). "Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH". Science. 314 (5801): 982–5. doi:10.1126/science.1133276. PMID 17095700. S2CID 17395376.
- Ali G, Chishti MS, Raza SI, et al. (2007). "A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis". Hum. Genet. 121 (3–4): 319–25. doi:10.1007/s00439-007-0344-0. PMID 17333281. S2CID 9640640.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.