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Gene Symbol |
CTSD |
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Aliases |
CLN10, CPSD, HEL-S-130P |
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Entrez Gene ID |
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Gene Name |
Cathepsin D |
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Chromosomal Location |
11p15.5 |
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HGNC ID |
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Summary |
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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000236671, ENST00000637815, ENST00000433655, ENST00000637915, ENST00000636571, ENST00000637387, ENST00000636843, ENST00000429746, ENST00000438213, ENST00000367196, ENST00000637381 |
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Protein |
ENSP00000236671, ENSP00000490344, ENSP00000404902, ENSP00000490471, ENSP00000490770, ENSP00000490598, ENSP00000490897, ENSP00000402586, ENSP00000415036, ENSP00000356164, ENSP00000490316
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Protein Information |
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Protein Name |
Cathepsin D, ceroid-lipofuscinosis, neuronal 10, epididymis secretory sperm binding protein Li 130P, lysosomal aspartyl peptidase, lysosomal aspartyl protease |
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Function |
Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease. |
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UniProt |
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PDB |
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
Neuronal ceroid lipofuscinosis |
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PCOS |
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Immune System Diseases |
Rheumatoid Arthritis |
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Musculoskeletal Diseases |
Osteoarthrosis Deformans |
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Arthritis |
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Neoplasms |
Renal Cancer |
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Prostate cancer |
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Liver Cancer |
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Nervous System Diseases |
Lateral Sclerosis |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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Apoptosis, coagulation, oxidative stress, lipid metabolism, the cytoskeleton, inflammatory and immune responses. Each of these biological functions absolutely play important roles in endometrial receptivity. |
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Rotterdam ESHRE/ ASRM- sponsored PCOS consesus. |
Direct
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12 PCOS patients and 12 Healthy females |
Differences in the endometrial proteome of women with PCOS compared with healthy fertile women may explain the poor reproductive outcomes in PCOS women. Identified proteins are mainly involved in apoptosis, coagulation, oxidative stress, lipid metabolism, the cytoskeleton, inflammatory and immune responses. Each of these biological functions absolutely play important roles in endometrial receptivity. |
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