GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: CTSD

id1509
symbolCTSD
organismHomo sapiens
full namecathepsin D
summaryThis 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]
variant-disease

NM_001909.5(CTSD):c.1071+12A>G AND not specified

NM_001909.5(CTSD):c.1077G>A (p.Ser359=) AND not specified

NM_001909.5(CTSD):c.294G>A (p.Thr98=) AND not specified

NM_001909.5(CTSD):c.-24C>T AND not specified

NM_001909.5(CTSD):c.957G>A (p.Pro319=) AND not specified

... 378 more


Partner site screenshots hd on site-shot.com.