[22] The NCLs present with progressive loss of visual function and neurodevelopmental decline, seizure, myoclonic jerks and premature death.

[10] It has been reported that a homozygous single nucleotide duplication in exon 6 could alter the reading frame and causes a premature stop codon at position 255.

This protease has been regarded an independent marker of poor prognosis in breast cancer being correlated with the incidence of clinical metastasis.

[23][24] Knock-out of CTSD gene would cause intestinal necrosis and hemorrhage and increase apoptosis in thymus, indicating that cathepsin D is required in certain epithelial cells for tissue remodeling and renewal.

[25] Cathepsin D enzymatic activity induces hydrolytic modification of apolipoprotein B-100-containing lipoproteins, including LDL, which means it may be involved in atherosclerosis as well.