Visão selecionada em Inglês
| Descritor em português: | Disferlina | ||||||
| Descritor em inglês: | Dysferlin | ||||||
| Descritor em espanhol: |
Disferlina
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| Descritor em francês: | Dysferline | ||||||
| Termo(s) alternativo(s): |
Fer 1 like Protein 1 Fer-1-like Protein 1 |
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| Código(s) hierárquico(s): |
D12.776.210.500.248 D12.776.543.225 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D000073939 | ||||||
| Nota de escopo: | A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES. |
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| Qualificadores permitidos: |
AD administration & dosage AE adverse effects AG agonists AI antagonists & inhibitors AN analysis BI biosynthesis BL blood CF cerebrospinal fluid CH chemistry CL classification CS chemical synthesis DE drug effects DF deficiency EC economics GE genetics HI history IM immunology IP isolation & purification ME metabolism PD pharmacology PH physiology PK pharmacokinetics PO poisoning RE radiation effects SD supply & distribution ST standards TO toxicity TU therapeutic use UL ultrastructure UR urine |
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| Indexação Anterior: |
Membrane Proteins (1998-2017) Muscle Proteins (1998-2017) |
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| Nota MeSH pública: | 2018 |
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| Nota histórica: | 2018 |
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| Identificador DeCS: | 57102 | ||||||
| ID do descritor: | D000073939 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/2018 | ||||||
| Data de entrada: | 11/07/2017 | ||||||
| Data de revisão: | 27/02/2017 |
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CHEMICALS AND DRUGS
Amino Acids, Peptides, and Proteins [D12]Amino Acids, Peptides, and Proteins -
CHEMICALS AND DRUGS
Amino Acids, Peptides, and Proteins [D12]Amino Acids, Peptides, and Proteins
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Dysferlin
- Conceito preferido
| Identificador do conceito |
M000625037 |
| Nota de escopo | A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES. |
| Termo preferido | Dysferlin |
| Termo(s) alternativo(s) |
Fer 1 like Protein 1 Fer-1-like Protein 1 |
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