C9orf72

C9orf72
識別號
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
相關疾病
	额颞叶痴呆[1]
基因位置（人类）
染色体	9號染色體[2]
终止	27,573,866 bp[2]
基因位置（小鼠）
染色体	小鼠4号染色体[3]
终止	35,226,175 bp[3]
基因本體
分子功能	• 血浆蛋白结合; • guanyl-nucleotide exchange factor activity;
細胞組分	• 自噬体; • 細胞外區域; • 核内体; • 溶酶体; • cytoplasmic vesicle; • 细胞核; • 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; • 轴突; • 树突; • 生长锥; • 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

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

.
GRCh38: Ensembl release 89: ENSG00000147894 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000028300 - Ensembl, May 2017
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. National Center for Biotechnology Information, U.S. National Library of Medicine.
（页面存档备份，存于） 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. . Behavioural Neurology. 2019, 2019: 2909168. PMC 6350563 . PMID 30774737. doi:10.1155/2019/2909168 .

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[1] .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000147894 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000028300 - Ensembl, May 2017

[4] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[6] （页面存档备份，存于） 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. . Behavioural Neurology. 2019, 2019: 2909168. PMC 6350563 . PMID 30774737. doi:10.1155/2019/2909168 .