CTSD (Cathepsin D) Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CTSD gene, its protein product cathepsin D, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | CTSD |
|---|---|
| Full Name | Cathepsin D |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 1509 ncbi.nlm.nih.gov/gene/1509 |
| Ensembl ID | ENSG00000117984 |
| UniProt ID | P07339 |
| OMIM ID | 116840 |
| HGNC ID | 2529 |
| Aliases | CLN10, CPSD, HEL-S-130P |
Description
The CTSD gene encodes cathepsin D, a lysosomal aspartic protease that plays a critical role in protein degradation, autophagy, and apoptosis. It is ubiquitously expressed and involved in various physiological and pathological processes, including neurodegeneration and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuronal Ceroid Lipofuscinosis 10 (CLN10) | Biallelic loss-of-function mutations in CTSD lead to deficient cathepsin D activity, causing accumulation of lipofuscin and neurodegeneration. | OMIM #116840; ClinVar |
| Breast Cancer | Overexpression and altered processing of cathepsin D are associated with poor prognosis and metastasis, likely via extracellular matrix degradation and growth factor activation. | COSMIC; multiple studies |
| Alzheimer's Disease | Cathepsin D may contribute to amyloid precursor protein processing and amyloid-beta accumulation, though evidence is mixed. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | High |
| Liver | High | High |
| Brain | Medium | Medium |
| Heart | Medium | Medium |
| Lung | Medium | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| MCF7 | High | Breast cancer cell line |
| HepG2 | High | Liver cancer cell line |
| A549 | Medium | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.115+1G>A | Splice site | Rare | Loss of function, causes CLN10 |
| p.Trp383Ter | Nonsense | Rare | Truncated protein, loss of function |
| p.Arg211Cys | Missense | Rare | Impaired enzymatic activity |
| p.Val104Ile | Missense | Low frequency | Possibly benign polymorphism |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to reduced or absent cathepsin D activity, causing lysosomal storage disorders.
Gain of Function (GOF)
In cancer, overexpression or altered processing may confer gain-of-function effects, promoting invasion and metastasis.
Dominant Negative (DN)
Rare; some missense mutations may exert dominant-negative effects by interfering with dimerization or trafficking.
View complete mutation data：
Gene Ontology (GO)
| • aspartic-type endopeptidase activity (GO:0004190) | • lysosome (GO:0005764) |
| • apoptotic process (GO:0006915) | • proteolysis (GO:0006508) |
| • autophagy (GO:0006914) |
Pathways
• Lysosomal degradation pathway
• Autophagy pathway
• Apoptosis signaling
Protein Summary
Cathepsin D is a 52 kDa lysosomal aspartic protease synthesized as a preproenzyme, processed to an active mature form. It functions in intracellular protein turnover, hormone processing, and cell death. Its dysregulation is linked to neurodegenerative diseases and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSD Knockout HEK293 Cell Line | EDJ-KQ50222 | Human | 1509 | Details Get a Quote |
| CTSD Knockout HeLa Cell Line | EDJ-KQ53028 | Human | 1509 | Details Get a Quote |
| CTSD Knockout A-549 Cell Line | EDJ-KQ61492 | Human | 1509 | Details Get a Quote |
| CTSD Knockout HCT 116 Cell Line | EDJ-KQ69987 | Human | 1509 | Details Get a Quote |
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