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6737 Mowry Ave
Newark, CA 94560
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ACTN4
actinin, alpha 4
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.
| Gene Name: | actinin, alpha 4 |
| Synonyms: | ACTN4, ACTININ-4, Actinin, alpha 4, Actinin alpha4 isoform, FSGS1, F-actin cross-linking protein, Non-muscle alpha-actinin 4, Alpha-actinin-4, FSGS |
| Target Sequences: | NM_004924 NP_004915.2 O43707 |
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