MYH3 Antibody, Biotin conjugated

說明書

中文名稱：

MYH3兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA015297LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) MYH3 Polyclonal antibody
Uniprot No.：

P11055
基因名：

MYH3
別名：

embryonic antibody; fast skeletal muscle antibody; HEMHC antibody; Muscle embryonic myosin heavy chain 3 antibody; Muscle embryonic myosin heavy chain antibody; MYH 3 antibody; Myh3 antibody; MYH3_HUMAN antibody; MYHC EMB antibody; MYHSE 1 antibody; MYHSE1 antibody; Myosin heavy chain 3 antibody; Myosin heavy chain 3 skeletal muscle embryonic antibody; Myosin heavy chain antibody; Myosin heavy chain fast skeletal muscle embryonic antibody; Myosin Heavy Polypeptide 3 antibody; Myosin heavy polypeptide 3 skeletal muscle embryonic antibody; Myosin skeletal heavy chain embryonic 1 antibody; Myosin-3 antibody; SMHCE antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Myosin-3 protein (1-217AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Muscle contraction.
基因功能參考文獻：
1. Although some MYH3 variants cause dominant Spondylocarpotarsal synostosis syndrome, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele. PMID: 29805041
2. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. PMID: 30228365
3. Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions. PMID: 28205584
4. our patient is the first reported case of a child with classical FSS, caused by a common MYH3 mutation, who has an unaffected mother with molecularly proven somatic mosaicism, who is also a likely gonadal mosaic. This case emphasizes the importance of parental genetic testing, when a clinically apparent de novo diagnosis is suspected in a child. PMID: 26996280
5. Protein-altering variants of MYH3 were identified in two families with symptoms related to autosomal dominant spondylocarpotarsal synostosis syndrome. PMID: 27381093
6. MYH3 mutations are associated with Freeman-Sheldon Syndrome. PMID: 26945064
7. developmental p.Thr178Ile MYH3 myopathy is associated with a combined pathomechanism of insufficient dosage of functional embryonic MyHC and production of mutant protein PMID: 26544689
8. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle PMID: 25740846
9. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3. PMID: 25957469
10. Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis. PMID: 22519952
11. eMYH plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy. PMID: 21862559
12. Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome). PMID: 21531865
13. show that mutations in the embryonic myosin heavy chain 3 gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly 1/3 of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis PMID: 16642020
14. This article reports novel MYH3 mutations associated with distal arthrogryposis and demonstrates myopathic changes in muscle biopsy specimens from 4 patients with distal arthrogryposis and MYH3 mutations. PMID: 18695058
15. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. PMID: 19142688
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相關疾病：

Arthrogryposis, distal, 2A (DA2A); Arthrogryposis, distal, 2B (DA2B); Arthrogryposis, distal, 8 (DA8)
亞細胞定位：

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
蛋白家族：

TRAFAC class myosin-kinesin ATPase superfamily, Myosin family
組織特異性：

Expressed in fetal bone, thymus, placenta, heart, brain, and liver.
數據庫鏈接：

HGNC: 7573

OMIM: 160720

KEGG: hsa:4621

STRING: 9606.ENSP00000226209

UniGene: Hs.440895

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