CTSD

Chr 11AR

cathepsin D

Also known as: CLN10, CPSD, HEL-S-130P

NCBI Gene: 1509 ENSG00000117984 UniProt: P07339 OMIM: 116840

The protein is a lysosomal enzyme that breaks down proteins and activates hormones and growth factors through pepsin-like proteolytic activity. Mutations cause neuronal ceroid lipofuscinosis-10, an autosomal recessive lysosomal storage disorder. The pathogenic mechanism involves dominant-negative effects where mutant protein disrupts normal lysosomal function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ceroid lipofuscinosis, neuronal, 10MIM #610127

Clinical highlights

Gene-disease validity (ClinGen)

neuronal ceroid lipofuscinosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

184

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

LOF

Mechanism· G2P

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