The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease,Molecular Genetics & Genomic Medicine

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The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-07-31 , DOI: 10.1002/mgg3.1777
Juan Yang ₁ , Xiaoting Ding ₁ , Shasha Meng ₁ , Jinhua Cai ₂ , Weihui Zhou ₁

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Cathepsin D is a lysosomal aspartic protease encoded by the CTSD gene. It plays important roles in many biological processes. Biallelic loss-of-function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disorder that is one of 14 types of neuronal ceroid lipofuscinoses (NCLs). To date, only a few cases of CLN10 and 12 disease-causing mutations have been reported worldwide.

中文翻译：

CTSD 基因的 c.863A>G (p.Glu288Gly) 变体与 CLN10 疾病无关

组织蛋白酶 D 是一种由CTSD基因编码的溶酶体天冬氨酸蛋白酶。它在许多生物过程中发挥着重要作用。CTSD的双等位基因功能丧失突变被认为是CLN10疾病的原因。CLN10 是一种罕见的常染色体隐性遗传病，是 14 种神经元蜡样脂褐质病 (NCL) 中的一种。迄今为止，全世界仅报告了少数 CLN10 和 12 种致病突变的病例。

更新日期：2021-07-31

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