Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 基因突变所影响的基因信息 α肌动蛋白属于血影蛋白基因超家族,代表了一组不同的细胞骨架蛋白,包括α和β血影蛋白和营养不良蛋白。α肌动蛋白是一种肌动蛋白结合蛋白,在不同的细胞类型中具有多...
bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene....
The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1‐related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We identified 15 rare, monoallelic, non﹕y...
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform...
该ACTN1 Monoclonal Antibody. Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle ...
A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.doi:10.1371/journal...
ACTN1 encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins...
three tran variants encoding different isoforms have been found for this gene. applications: elisa, wb name of antibody: actn1 immunogen: fusion protein of human actn1 full name: actinin, alpha 1 synonyms: bdplt15 swissprot: p12814 elisa recommended dilution: 500-0 wb ...
Mutations in ACTN1, the gene encoding the actin-crosslinking protein α-actinin-1, cause autosomal dominant macrothrombocytopenia. α-Actinin-1 exists as antiparallel dimers, composed of an N-terminal actin-binding domain (ABD), four spectrin-like repeats (SLRs), which form the spacer rod, and...
Ensembl Gene IDENSMUSG00000015143.16 Ensembl mRNA IDActn1-201 包装清单: 产品编号产品名称包装 QM07946SMouse Actn1 qPCR Primer Pair1nmol each —说明书1份 保存条件: -20℃保存。建议复溶后进行适当分装,避免反复冻融。 注意事项: PCR扩增产物的长度可能会因基因转录后存在多种剪接形式而有所差异。