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C9orf72
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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]
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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
- 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
.