C9orf72

C9orf72
識別號
別名	C9orf72；, chromosome 9 open reading frame 72, ALSFTD, FTDALS, FTDALS1, DENNL72, C9orf72-SMCR8 complex subunit, DENND9
外部ID	OMIM：614260 MGI：1920455 HomoloGene：10137 GeneCards：C9orf72
相關疾病
	額顳葉認知障礙症
基因位置（人類）
染色體	9號染色體
終止	27,573,866 bp
基因位置（小鼠）
染色體	小鼠4號染色體
終止	35,226,175 bp
基因本體
分子功能	• 血漿蛋白結合; • guanyl-nucleotide exchange factor activity;
細胞組分	• 自噬體; • 細胞外區域; • 核內體; • 溶酶體; • cytoplasmic vesicle; • 細胞核; • 細胞外空間; • guanyl-nucleotide exchange factor complex; • 細胞質; • Atg1/ULK1 kinase complex; • axonal growth cone; • main axon; • 處理小體; • 膜; • 軸突; • 樹突; • 生長錐; • 核膜; • cell projection; • 細胞本體; • 應激顆粒; • neuron projection;
生物學過程	• 內吞作用; • positive regulation of macroautophagy; • regulation of autophagy; • regulation of TORC1 signaling; • 自噬; • negative regulation of protein phosphorylation; • stress granule assembly; • axon extension; • regulation of actin filament organization; • late endosome to lysosome transport; • regulation of autophagosome assembly; • negative regulation of GTP binding;
	Sources:Amigo / QuickGO
直系同源
	203228
	73205
	ENSG00000147894
	ENSMUSG00000028300
	Q96LT7
	Q6DFW0
	NM_145005; NM_001256054; NM_018325
	NM_001081343; NM_028466
	NP_001242983; NP_060795; NP_659442
	NP_001074812; NP_082742
	維基數據
檢視/編輯人類	檢視/編輯小鼠

C9orf72（9號染色體72號開放閱讀框）在人體中是由C9orf72基因編碼的蛋白。人C9orf72基因位於9號染色體的短臂，從第27,546,546鹼基對到第27,573,866鹼基對(GRCh38)。細胞遺傳學定位是9p21.2。^[6]

目前已在大腦的很多區域發現C9orf72蛋白，包括神經元的細胞質和突觸前端。C9orf72基因中的突變是人類發現的第一個也是最常見的額顳葉認知障礙症(FTD)和肌萎縮性脊髓側索硬化症(ALS)遺傳性致病機制。^[7]

參見

^ 與C9orf72相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000147894 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000028300 - 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.
^ （[//web.archive.org/web/20221005232229/https://www.ncbi.nlm.nih.gov/gene?linkname=protein_gene&from_uid=365906244 頁面存檔備份，存於互聯網檔案館） C9orf72 chromosome 9 open reading frame 72 [Homo sapiens] - Gene - NCBI]
^ Babić Leko M, Župunski V, Kirincich J, Smilović D, Hortobágyi T, Hof PR, Šimić G. C9orf72 Hexanucleotide Repeat Expansion. Behavioural Neurology. 2019, 2019: 2909168. PMC 6350563 . PMID 30774737. doi:10.1155/2019/2909168 .

[1] 與C9orf72相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000147894 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000028300 - Ensembl, May 2017

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

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

[6] （[//web.archive.org/web/20221005232229/https://www.ncbi.nlm.nih.gov/gene?linkname=protein_gene&from_uid=365906244 頁面存檔備份，存於互聯網檔案館） C9orf72 chromosome 9 open reading frame 72 [Homo sapiens] - Gene - NCBI]

[Leko-7] Babić Leko M, Župunski V, Kirincich J, Smilović D, Hortobágyi T, Hof PR, Šimić G. C9orf72 Hexanucleotide Repeat Expansion. Behavioural Neurology. 2019, 2019: 2909168. PMC 6350563 . PMID 30774737. doi:10.1155/2019/2909168 .

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