rs557342549

This variant is located in the CTSD gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters1 publication

Neuronal ceroid lipofuscinosis 10; not provided; Inborn genetic diseases; Neuronal ceroid lipofuscinosis

About CTSD

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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