Summary of CTSD
This gene encodes an enzyme called cathepsin D that can break down and activate proteins, and regulate self-destruction of the cell (R).
The Function of CTSD
Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.
Protein names
Recommended name:
Cathepsin D- RS17571 (CTSD) ??
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Top Gene-Substance Interactions
CTSD Interacts with These Diseases
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Substances That Increase CTSD
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Substances That Decrease CTSD
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Advanced Summary
congenital neuronal ceroid lipofuscinosis At least four mutations in the CTSD gene have been found to cause congenital neuronal ceroid lipofuscinosis (NCL). Congenital NCL is characterized by muscle rigidity, respiratory failure, severe seizures, and death in infancy. The CTSD gene mutations that cause congenital NCL lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and other materials are not broken down properly. In the lysosomes, these substances accumulate into fatty substances called lipopigments. These accumulations occur in cells throughout the body, but neurons are likely particularly vulnerable to damage caused by the abnormal cell materials and the loss of cathepsin D function. Early and widespread cell death in congenital NCL leads to severe signs and symptoms and death in infancy.
The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin D can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis). Cathepsin D is produced as an inactive enzyme, called a preproenzyme, which has extra protein segments attached. These segments must be removed, followed by additional processing steps, for the enzyme to become active.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in the aorta extrcellular space (at protein level).
Gene Pathways:
Molecular Function:
- Aspartic-Type Endopeptidase Activity
- Cysteine-Type Endopeptidase Activity
- Serine-Type Endopeptidase Activity
Biological Processes:
- Antigen Processing And Presentation Of Exogenous Peptide Antigen Via Mhc Class Ii
- Autophagy
- Collagen Catabolic Process
- Protein Catabolic Process
Drug Bank:
- Insulin Regular