CTSD, Official Symbol CTSDprovided by HGNC Official Full Name cathepsin Dprovided by HGNC Primary source HGNC:HGNC:2529 See related Ensembl:ENSG00000117984 MIM:116840; AllianceGenome:HGNC:2529 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CPSD; CLN10; HEL-S-130P 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. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in lung (RPKM 302.1), kidney (RPKM 273.0) and 25 other tissues See more Orthologs mouse all