One such family, the alpha-actinin gene family, is part of the spectrin superfamily. There are four known loci, which encode alpha-actinins 1, 2, 3, and 4. Of the eight domains in alpha-actinin, the actin-binding domain is the most highly conserved. Here we present evidence gained ...
IntroductionACTN1 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...
actinin alpha 1(ACTN1) Homo sapiens 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 ...
Introduction 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...
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. [provided...
A mutation in the |[alpha]| tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of alpha-actinin an... N Laing - 《Nature Genetics》 被...
Gene Symbol ACTN1 GeneID 87 109711 81634 NCBI Accession NP_001123476.1 NP_001093.1 NP_001123477.1 Buffer Tris saline, pH 7.3, containing 0.02% sodium azide and 0.5% bovine serum albumin. Concentration 0.5 mg/ml Availability Shipped within 5-10 working days. Note This product is for research...
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...
Human s-afadin is identical to the gene product of AF-6, a gene that has been identified as an ALL-1 fusion partner that is involved in acute myeloid leukemias (37). Unless otherwise specified, afadin refers to l-afadin in this paper. Download: Download high-res image (270KB) Download...
2001, Oncogene Functional importance of conserved domains in the flowering-time gene CONSTANS demonstrated by analysis of mutant alleles and transgenic plants 2001, Plant Journal View all citing articles on Scopus1 Present address: Department of Physiology, University of California at San Francisco, San...