ACTN1 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, 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 by RefSeq, Jul 2008]

ACTN1 Details

Gene Symbol : ACTN1

Gene Name : Actinin alpha 1

Chromosome : CHR 14: 689,793,65-688,741,22

Locus : 14q22-q24

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DCAF5 Details

Gene Symbol : DCAF5

Gene Name : DDB1 and CUL4 associated factor 5

Chromosome : CHR 14: 691,533,92-690,509,19

Locus : 14q24.1

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