Myof gene
WebDescription: Mus musculus predicted gene, 39566 (Gm39566), mRNA. (from RefSeq NM_001378260) Gencode Transcript: ENSMUST00000210714.2 Gencode Gene: ENSMUSG00000109737 ... WebIt is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated …
Myof gene
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WebJan 10, 2024 · sulfate-glucosamine 3-O-sulfotransferase 6 (HS3ST6), or myoferlin (MYOF) gene mutation as confirmed by genetic testing, or o Member has a documented family history of angioedema and the angioedema was refractory to a trial of high-dose antihistamine (i.e., cetirizine at 40 mg per day or equivalent) for at least one month. Web3-O-sulfotransferase 6 (HS3ST6), or myoferlin (MYOF) gene mutation as confirmed by genetic testing, or 2. Member has a documented family history of angioedema and the angioedema was refractory to a trial of high-dose antihistamine therapy (i.e., cetirizine at 40 mg per day or the equivalent) for at least one month. V. CONTINUATION OF THERAPY
WebMYOF, also named as FER1L3 and KIAA1207, belongs to the ferlin family. MYOF is a calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. It is involved in endocytic recycling. Myoferlin is a protein that in humans is encoded by the MYOF gene. Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with bot…
WebJul 31, 2024 · The MYOF gene (MYOF stands for "myoferlin") is a protein-coding gene located on chromosome 10q23.33. Two transcript variants encoding different isoforms … WebGene target information for MYOF - myoferlin (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.
WebJun 11, 2024 · Myoferlin (MYOF) belongs to a family of genes similar to Caenorhabditis elegans ferlin. Members of this family contain a type II transmembrane domain with the …
Web17 hours ago · Frank Gene Thomen, 78, De Soto. 9 min ago. Frank Gene Thomen, 78, of De Soto died April 12, 2024, at his home. Mr. Thomen worked as an inspector for the … sunova group melbourneWebJun 26, 2024 · MYOF, which encodes the myoferlin protein, is associated with the plasma membrane (36). In humans, dysfunction of MYOF can cause abnormal muscle morphology and skeletal muscle fiber... sunova flowWebApr 12, 2024 · Jenna Wolfe is focused on her recovery. The former NBC anchor, 49, revealed in an Instagram post on Tuesday that she underwent a mastectomy after testing positive for the BRCA-1 breast cancer gene ... sunova implementWebJan 14, 2024 · Several other genetic mechanisms also have a role in pathogenesis of HAE [3, 5].These include genetic defects in factor 12 gene (F12), plasminogen gene (PLG), and angiopoietin gene (ANGPT1) [3, 6,7,8,9].Recently, defects in kininogen 1 (KNG1) and myoferlin (MYOF) genes have also been identified in some patients with nC1-INH-HAE [10, … sunpak tripods grip replacementWebgene (HAE-PLG), HAE with a specic mutation in the ANGPT1 gene (HAE-ANGPT1), HAE with a specic mutation in the KNG1 gene (HAE-KNG1), and HAE with a specic mutation in the MYOF gene (HAE-Myoferlin). In many families with HAEnCl, the genetic back-ground of the disease is still unknown (referred to as "HAE-unknown") [, 138 ]. Table 1 summarizes the ... su novio no saleWebFeb 13, 2024 · NM_013451.4(MYOF):c.491C>T (p.Pro164Leu) Cite this record. Cite this record Close. Copy. Help Interpretation: Uncertain significance Review status: criteria provided, single submitter Submissions: 1 First in ClinVar: ... sunova surfskateWebSep 2, 2024 · Myoferlin (MYOF) is a 230 kDa protein containing a transmembrane domain and six C2 domains that contribute to plasma membrane repair, fusion, and endocytosis. MYOF has been found to regulate... sunova go web