G6PC

G6PC1
معین‌کننده‌ها
نام‌های دیگر	G6PC1, glucose-6-phosphatase catalytic subunit, GSD1a, glucose-6-phosphatase catalytic subunit 1, GSD1, G6Pase, G6PC, G6PT
شناسه‌های بیرونی	OMIM: 613742 MGI: 95607 HomoloGene: 20079 GeneCards: G6PC1
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۱ (موش)
پایان	101,268,729 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• phosphate ion binding; • phosphotransferase activity, alcohol group as acceptor; • hydrolase activity; • glucose-6-phosphatase activity;
ترکیبات سلولی	• integral component of membrane; • endoplasmic reticulum membrane; • membrane; • intracellular membrane-bounded organelle; • integral component of endoplasmic reticulum membrane; • شبکه آندوپلاسمی;
فرایند زیستی	• phosphorylated carbohydrate dephosphorylation; • steroid metabolic process; • glucose homeostasis; • multicellular organism growth; • گلیکوﮊنولیز; • urate metabolic process; • lipid homeostasis; • glycogen metabolic process; • ساماندهی بیان ژن; • response to food; • phosphate-containing compound metabolic process; • cholesterol homeostasis; • glucose 6-phosphate metabolic process; • triglyceride metabolic process; • glucose-6-phosphate transport; • نوگلوکززایی;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2538
	14377
	ENSG00000131482
	ENSMUSG00000078650
	P35575
	P35576
	NM_000151 NM_001270397، NM_000151
	NM_008061
	NP_001257326 NP_000142، NP_001257326
	NP_032087
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

گلوکز-۶-فسفاتاز، زیرواحد کاتالیتیک (انگلیسی: Glucose-6-phosphatase, catalytic subunit) یک آنزیم است که در انسان توسط ژن «G6PC» کُدگذاری می‌شود.^[۴]^[۵]

این آنزیم یک پروتئین پوسته‌ای در شبکه آندوپلاسمی است که موجب هیدرولیز «دی-گلوکز-۶-فسفات» به دو مادهٔ «دی-گلوکز» و «اورتوفسفات» می‌گردد و یک آنزیم بسیار مهم در هوموستاز گلوکز طی فرایندهای گلوکونئوژنز و گلیکوژنولیز محسوب می‌شود.

اهمیت بالینی

نقص در این آنزیم سبب بروز گلیکوژنوز نوع یک (بیماری فون ژیرکه) می‌گردد.^[۵]

جستارهای وابسته

گلیکوژنوز نوع یک

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000078650 - 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.
↑ Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J, et al. (Jul 1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. doi:10.1016/0888-7543(95)80131-5. PMID 7774924.
↑ ^۵٫۰ ^۵٫۱ "Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit".

مشارکت‌کنندگان ویکی‌پدیا. «G6PC». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲ نوامبر ۲۰۱۸.

بیشتر بخوانید

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Kajihara S, Matsuhashi S, Yamamoto K, et al. (1995). "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan". Am. J. Hum. Genet. 57 (3): 549–55. PMC 1801279. PMID 7668282.
Lei KJ, Pan CJ, Shelly LL, et al. (1994). "Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a". J. Clin. Invest. 93 (5): 1994–9. doi:10.1172/JCI117192. PMC 294308. PMID 8182131.
Lei KJ, Shelly LL, Pan CJ, et al. (1993). "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a". Science. 262 (5133): 580–3. doi:10.1126/science.8211187. PMID 8211187.
Schmoll D, Allan BB, Burchell A (1996). "Cloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cells". FEBS Lett. 383 (1–2): 63–6. doi:10.1016/0014-5793(96)00224-4. PMID 8612793.
Lei KJ, Chen H, Pan CJ, et al. (1996). "Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse". Nat. Genet. 13 (2): 203–9. doi:10.1038/ng0696-203. PMID 8640227.
Chevalier-Porst F, Bozon D, Bonardot AM, et al. (1996). "Mutation analysis in 24 French patients with glycogen storage disease type 1a". J. Med. Genet. 33 (5): 358–60. doi:10.1136/jmg.33.5.358. PMC 1050601. PMID 8733042.
Lee WJ, Lee HM, Chi CS, et al. (1997). "Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family". Clin. Genet. 50 (4): 206–11. doi:10.1111/j.1399-0004.1996.tb02627.x. PMID 9001800.
Parvari R, Lei KJ, Bashan N, et al. (1997). "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies". Am. J. Med. Genet. 72 (3): 286–90. doi:10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P. PMID 9332655.
Gerin I, Veiga-da-Cunha M, Achouri Y, et al. (1998). "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib". FEBS Lett. 419 (2–3): 235–8. doi:10.1016/S0014-5793(97)01463-4. PMID 9428641.
Kure S, Suzuki Y, Matsubara Y, et al. (1998). "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11". Biochem. Biophys. Res. Commun. 248 (2): 426–31. doi:10.1006/bbrc.1998.8985. PMID 9675154.
Pan CJ, Lei KJ, Chou JY (1998). "Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase". J. Biol. Chem. 273 (34): 21658–62. doi:10.1074/jbc.273.34.21658. PMID 9705299.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000078650 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7774924-4] Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J, et al. (Jul 1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. doi:10.1016/0888-7543(95)80131-5. PMID 7774924.

[entrez-5] ۵٫۰ ^۵٫۱ "Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit".

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