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CLN10

Chr 11

cathepsin D

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

NCBI Gene: 1509

The protein is cathepsin D, a lysosomal peptidase that degrades proteins and processes hormones and growth factors. Mutations cause neuronal ceroid lipofuscinosis-10, a progressive neurodegenerative disorder characterized by seizures, vision loss, and cognitive decline. This condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM

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]

ResearchGenerating clinical summary…

Clinical highlights

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (3)

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