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Article

The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.

Molecular genetics & genomic medicine - 1 Oct 2021

Yang Juan, Ding Xiaoting, Meng Shasha, Cai Jinhua, Zhou Weihui

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 34331747
DOI: 10.1002/mgg3.1777
PMCID: PMC8580076

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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