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P37840 Proteins with OtherRepeats Repeats
Uniprot ID: P37840
Protein name : Alpha-synuclein
Gene : SNCA NACP PARK1
Protein Families : Synuclein family
Squence Length : 140
Sequence
>P37840 141 MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQKTVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMPSEEGYQDYEPEA
Repeat regions
REPEAT 20 30 1 REPEAT 31 41 2 REPEAT 42 56 3 approximate REPEAT 57 67 4
Sequence region of repeats
20- 30 TKQGVAEAAGK 31- 41 TKEGVLYVGSK 42- 56 TKEGVVHGVATVAEK - D 57- 67 TKEQVTNVGGA
Function
"May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation"
Mutation
2 2 D->A: Impairs copper-binding 35 35 E->K: No effect on oligomerization 39 39 Y->F: No effect on osmotic stress-induced phosphorylation 50 50 H->A: Impairs copper-binding 57 57 E->K: Increases oligomerization 67 71 Missing: Reduces polymerization into amyloid fibrils 71 82 Missing: Impairs polymerization into amyloid fibrils 76 77 Missing: Impairs polymerization into amyloid fibrils 76 76 Missing: Does not affect polymerization into amyloid fibrils 77 77 Missing: Does not affect polymerization into amyloid fibrils 78 78 Missing: Does not affect polymerization into amyloid fibrils 85 94 Missing: Reduces polymerization into amyloid fibrils 125 125 Y->F: Abolishes osmotic stress-induced phosphorylation 133 133 Y->F: No effect on osmotic stress-induced phosphorylation 136 136 Y->F: No effect on osmotic stress-induced phosphorylation
Disease
"DISEASE: Note=Genetic alterations of SNCA resulting in aberrant polymerization into fibrils, are associated with several neurodegenerative diseases (synucleinopathies) SNCA fibrillar aggregates represent the major non A-beta component of Alzheimer disease amyloid plaque, and a major component of Lewy body inclusions They are also found within Lewy body (LB)-like intraneuronal inclusions, glial inclusions and axonal spheroids in neurodegeneration with brain iron accumulation type 1 ; DISEASE: Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors However, some patients present with a positive family history for the disease Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Parkinson disease 4, autosomal dominant (PARK4) [MIM:605543]: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Dementia Lewy body (DLB) [MIM:127750]: A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease Note=The disease is caused by mutations affecting the gene represented in this entry"