C9orf72

C9orf72
识别号
别名	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
相关疾病
	额颞叶痴呆
基因位置（人类）
染色体	9号染色体
终止	27,573,866 bp
基因位置（小鼠）
染色体	小鼠4号染色体
终止	35,226,175 bp
基因本体
分子功能	• 血浆蛋白结合; • guanyl-nucleotide exchange factor activity;
细胞组分	• 自噬体; • 细胞外区域; • 核内体; • 溶酶体; • cytoplasmic vesicle; • 细胞核; • 细胞外空间; • guanyl-nucleotide exchange factor complex; • 细胞质; • Atg1/ULK1 kinase complex; • axonal growth cone; • main axon; • 处理小体; • 膜; • 轴突; • 树突; • 生长锥; • 核膜; • cell projection; • 细胞本体; • 应激颗粒; • neuron projection;
生物学过程	• 内吞作用; • 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
	维基数据
查看/编辑人类	查看/编辑小鼠

C9orf72（9号染色体72号开放阅读框）在人体中是由C9orf72基因编码的蛋白。人C9orf72基因位于9号染色体的短臂，从第27,546,546碱基对到第27,573,866碱基对(GRCh38)。细胞遗传学定位是9p21.2。^[6]

目前已在大脑的很多区域发现C9orf72蛋白，包括神经元的细胞质和突触前端。C9orf72基因中的突变是人类发现的第一个也是最常见的额颞叶痴呆(FTD)和肌萎缩性脊髓侧索硬化症(ALS)遗传性致病机制。^[7]

参见

^ 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 页面存档备份，存于互联网档案馆） 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 页面存档备份，存于互联网档案馆） 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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