Cathepsin D, Human Liver (CTSD) Active Protein

This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq, Jul 2008]

CTSD: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease. Consists of a light chain and a heavy chain. Belongs to the peptidase A1 family.

Protein type: Motility/polarity/chemotaxis; Autophagy; Protease; EC 3.4.23.5

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: extracellular matrix; extracellular space; lysosomal lumen; lysosome; melanosome; extracellular region

Molecular Function: protein binding; aspartic-type endopeptidase activity

Biological Process: collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; antigen processing and presentation of exogenous peptide antigen via MHC class II; proteolysis

Disease: Ceroid Lipofuscinosis, Neuronal, 10