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CARASAL
Cathepsin-A Related Arteriopathy with Strokes And Leukoencephalopathy (CARASAL) is a rare genetic disorder that is caused by mutation in a gene Cathepsin A, ''CTSA'' which is located on a chromosome 20. This disease is allelic to Galactosialidosis. This disease usually begins with a headache, decreased concentration, abnormalities in gait, lack of inhibition, also it usually presents with migraine, Depression (mood), depression, vertigo and High blood pressure, high blood preasure. Symptoms The signs of this disease are: migraine, Transient ischemic attack, mini-stroke, Facial nerve paralysis, facial palsy, dementia, Depression (mood), depression, problems with concentration and movements, vertigo, Dysphagia, difficulty in swallowing, Dysarthria, slurring of speech, sicca symptoms, problems with REM sleep and drug-resistant hypertension. This condition usually manifest in the third to fifth decades of life. Cause CARASAL is caused by mutation of the Cathepsin A, CTSA whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cathepsin A
Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the ''CTSA'' gene. The enzyme is also known as Human Protective Protein. It is a lysosomal serine carboxypeptidase. The enzyme is a zymogen and must be processed to produce a 32 kDa and 20 kDa large and small subunit, respectively, to become catalytically active. Cathespin L can activate Cathepsin A in vitro. Structure Cathepsin A contains a large and small subunit. The active site contains unusual pairs of carboxylic acids hydrogen bonded to one another, sometimes referred to as "Rebek pairs". The pairing of these carboxylic acids raises the pKa of one glutamate to ~13 while the other has a predicted pKa of ~6. Function This gene encodes a glycoprotein that associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high-molecular-weight multimers. The formation of this complex provides a protective role for stability and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
