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Gene : ACTN1 Homo sapiens

Name  ? actinin alpha 1 Cytological Location  14q24.1|14q22-q24
Brief Description  actinin alpha 1
description  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]
  • synonyms:
  • NM_001102,
  • M95178,
  • HGNC:163,
  • uc001xkl.4,
  • OTTHUMG00000171386,
  • ACTN1,
  • BDPLT15
  • identifiers:
  • 87,
  • ENSG00000072110,
  • ACTN1

Genome feature

Region: gene ? Length: 105244  
Location: 14:68874123-68979366 reverse strand Cyto location: 14q24.1|14q22-q24


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Disease

1 Diseases

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177 SN Ps

5 Cross References

20 Data Sets

20 Homologues

0 Located Features

90 Rna Seq Results