| Entrez gene ID | | 81 |
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| Official gene symbol | | ACTN4 |
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| Full name | | actinin, alpha 4 |
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| Aliases | | ,ACTININ-4,DKFZp686K23158,FSGS,FSGS1, |
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| Gene summary | | 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 is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq] |
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| Location | | Chromosome: 19 Locus: 19q13 |
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| Gene position | | 39138327 - 39221170 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 82844 bp |
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| Gene sequence |
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| OMIM ID | | 604638 |
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