Gene: CTSD

Alternate names for this Gene: CLN10|CPSD|HEL-S-130P

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: cathepsin D

Type of Gene: protein-coding

rs55861089 in CTSD gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1057519591 in CTSD gene and NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY PMID 16685649 2006 Cathepsin D deficiency is associated with a human neurodegenerative disorder.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 16670177 2006 Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.