CTSD Chromosome 11
Cathepsin D
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What This Gene Does
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]
Gene Info
Gene Group
"Cathepsins|Peptidase family A1"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000117984
Associated Conditions (6)
Neuronal ceroid lipofuscinosis
Inborn genetic diseases
Neuronal ceroid lipofuscinosis 10
CTSD-related disorder
Severe microlissencephaly
Exaggerated startle response
Key Variants
RS1021613206
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS1057519591
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
Health Risk
RS113936232
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
Health Risk
RS139154882
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS140238987
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
RS140563067
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CTSD-related disorder
Health Risk
RS142330967
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
Health Risk
RS143517230
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases
Health Risk
RS146073498
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
RS147553344
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS147641822
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases
Health Risk
RS147800688
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760929484 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS766300396 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS797045137 | Health Risk | Likely pathogenic | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10 |
| RS121912789 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10 |
| RS121912790 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10 |
| RS1402574017 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1466648123 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1845759700 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1845792332 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1845841728 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS1845850847 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2133657826 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2133657906 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2133668728 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10 |
| RS2493816593 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493816889 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493817148 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493820452 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493820472 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493823481 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493823533 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493823652 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493825774 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493825798 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2493834507 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS35855065 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS539823013 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS752612332 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis |
| RS774781089 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS786205105 | Health Risk | Pathogenic | Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10 |