PLA2G6
فسفولیپاز ای۲ غیر وابسته به کلسیم با وزن مولکولی ۸۵ کیلو دالتون (انگلیسی: 85 kDa calcium-independent phospholipase A2) یا فسفولیپاز ای۲ گروه ۶ یک آنزیم است که در انسان توسط ژن «PLA2G6» واقع بر کروموزوم ۲۲ کدگذاری میشود.[۵][۶][۷][۸][۹][۱۰]
عملکرد
این آنزیم در تنظیم سطح فسفاتیدیل کولین در پوستهٔ سلول نقش دارد.[۱۱] این آنزیم همچنین در آسیلاسیون کاردیولیپین مؤثر است و وجودش برای تعیین جهت حرکت و سرعت کموتاکسی مونوسیتها ضروری است.
اهمیت بالینی
جهش در ژن سازندهٔ این آنزیم در بروز بیماریهای زیر نقش دارد:[۱۲][۹][۱۰]
- تخریب عصبی با تجمع آهن در مغز، نوع ۲ آ (NBIA2A)
- تخریب عصبی با تجمع آهن در مغز، نوع ۲ بی (NBIA2B)
- بیماری پارکینسون ۱۴ (PARK14)
- پاراپلژی اسپاستیک ارثی
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCh38: Ensembl release 89: ENSG00000184381 – Ensembl, May 2017
- ↑ ۲٫۰ ۲٫۱ ۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000042632 – 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.
- ↑ Larsson PK, Claesson HE, Kennedy BP (Jan 1998). "Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity". The Journal of Biological Chemistry. 273 (1): 207–14. doi:10.1074/jbc.273.1.207. PMID 9417066.
{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - ↑ Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ (Sep 2006). "Characterization of the human patatin-like phospholipase family". Journal of Lipid Research. 47 (9): 1940–9. doi:10.1194/jlr.M600185-JLR200. PMID 16799181.
{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - ↑ Kienesberger PC, Oberer M, Lass A, Zechner R (Apr 2009). "Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions". Journal of Lipid Research. 50 Suppl: S63-8. doi:10.1194/jlr.R800082-JLR200. PMC 2674697. PMID 19029121.
{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - ↑ "Entrez Gene: PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)".
This article incorporates text from this source, which is in the public domain.
- ↑ ۹٫۰ ۹٫۱ "PLA2G6 - 85/88 kDa calcium-independent phospholipase A2 - Homo sapiens (Human) - PLA2G6 gene & protein". Retrieved 2018-08-22.
This article incorporates text available under the CC BY 4.0 license.
- ↑ ۱۰٫۰ ۱۰٫۱ "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
- ↑ "PLA2G6". Genetics Home Reference. NCBI. This article incorporates text from this source, which is in the public domain.
- ↑ Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E (2017) PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clin Genet 92(5):534-539
- مشارکتکنندگان ویکیپدیا. «PLA2G6». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۲۸ ژانویه ۲۰۱۹.
برای مطالعهٔ بیشتر
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{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - Tanaka H, Minakami R, Kanaya H, Sumimoto H (Aug 2004). "Catalytic residues of group VIB calcium-independent phospholipase A2 (iPLA2gamma)". Biochemical and Biophysical Research Communications. 320 (4): 1284–90. doi:10.1016/j.bbrc.2004.05.225. PMID 15249229.
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