ABHD5
| 1-acilglicerol-3-fosfat O-aciltransferaza | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | ABHD5; CDS; CGI58; IECN2; NCIE2 | ||||||||||
| Vanjski ID | OMIM: 604780 MGI: 1914719 HomoloGene: 41088 GeneCards: ABHD5 Gene | ||||||||||
| EC broj | 2.3.1.51 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 51099 | 67469 | |||||||||
| Ensembl | ENSG00000011198 | ENSMUSG00000032540 | |||||||||
| UniProt | Q8WTS1 | Q9DBL9 | |||||||||
| RefSeq (mRNA) | NM_016006 | NM_026179 | |||||||||
| RefSeq (protein) | NP_057090 | NP_080455 | |||||||||
| Lokacija (UCSC) |
Chr 3: 43.73 - 43.78 Mb |
Chr 9: 122.35 - 122.38 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
1-acilglicerol-3-fosfat O-aciltransferaza (ABHD5) enzim je koji je kod čoveka kodiran ABHD5 genom.[1][2]
Protein kodiran ovom genom pripada velikoj familiji proteina definisanih alfa/beta hidrolaznim savijanjem, i sadrži tri sekventna motiva koji odgovaraju katalitičkoj trijadi prisutnoj u esteraznoj/lipaznoj/tioesteraznoj potfamiliji. On se razlikuje od drugih članova ove potfamilje po tome što njegova katalitička trijada sadrži asparagin umesto serina. Mutacije ovog gena su povezane sa Čanarin-Dorfmanovim sindromom, bolešću trigliceridnog skladišta praćenu umanjenom oksidaciom dugolančanih masnih kiselina.[2][3]
Reference
[уреди | уреди извор]- ^ Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (2008). „CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid”. J Biol Chem. 283 (36): 24525—33. PMID 18606822. doi:10.1074/jbc.M801783200.
- ^ а б „Entrez Gene: ABHD5 abhydrolase domain containing 5”.
- ^ Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J (2001). „Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome”. Am J Hum Genet. 69 (5): 1002—12. PMC 1274347
. PMID 11590543. doi:10.1086/324121.
Literatura
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- 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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Schleinitz N; Fischer J; Sanchez A; et al. (2005). „Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease”. Archives of dermatology. 141 (6): 798—800. PMID 15967942. doi:10.1001/archderm.141.6.798.
- Lass A; Zimmermann R; Haemmerle G; et al. (2007). „Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome”. Cell Metab. 3 (5): 309—19. PMID 16679289. doi:10.1016/j.cmet.2006.03.005.
- Yamaguchi T; Omatsu N; Morimoto E; et al. (2007). „CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation”. J. Lipid Res. 48 (5): 1078—89. PMID 17308334. doi:10.1194/jlr.M600493-JLR200.
- Ben Selma Z; Yilmaz S; Schischmanoff PO; et al. (2007). „A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome”. J. Invest. Dermatol. 127 (9): 2273—6. PMID 17495960. doi:10.1038/sj.jid.5700860.
- Fischer J, Negre-Salvayre A, Salvayre R (2007). „[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]”. Med Sci (Paris). 23 (6–7): 575—8. PMID 17631826. doi:10.1051/medsci/20072367575.
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