| Descriptor English: | Dysferlin | ||||||
| Descriptor Spanish: |
Disferlina
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| Descriptor Portuguese: | Disferlina | ||||||
| Descriptor French: | Dysferline | ||||||
| Entry term(s): |
Fer 1 like Protein 1 Fer-1-like Protein 1 |
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| Tree number(s): |
D12.776.210.500.248 D12.776.543.225 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D000073939 | ||||||
| Scope note: | 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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| Allowable Qualifiers: |
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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| Previous Indexing: |
Membrane Proteins (1998-2017) Muscle Proteins (1998-2017) |
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| Public MeSH Note: | 2018 |
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| History Note: | 2018 |
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| DeCS ID: | 57102 | ||||||
| Unique ID: | D000073939 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2018/01/01 | ||||||
| Date of Entry: | 2017/07/11 | ||||||
| Revision Date: | 2017/02/27 |
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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
- Preferred
| Concept UI |
M000625037 |
| Scope note | 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. |
| Preferred term | Dysferlin |
| Entry term(s) |
Fer 1 like Protein 1 Fer-1-like Protein 1 |
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