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ACTN4

ACTN4
Protein ACTN4 PDB 1wlx.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ACTN4, ACTININ-4, FSGS, FSGS1, Actinin alpha 4
External IDs MGI: 1890773 HomoloGene: 55857 GeneCards: ACTN4
RNA expression pattern
PBB GE ACTN4 200601 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004924
NM_001322033

NM_021895

RefSeq (protein)

NP_001308962
NP_004915

NP_068695.1
NP_068695

Location (UCSC) Chr 19: 38.65 – 38.73 Mb Chr 7: 28.89 – 28.96 Mb
PubMed search

1WLX, 1YDI, 2R0O

NM_004924
NM_001322033

NM_021895

NP_001308962
NP_004915

NP_068695.1
NP_068695

Alpha-actinin-4 is a protein that in humans is encoded by the ACTN4 gene.

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.


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