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actinin, alpha 4 OKDB#: 4808
 Symbols: ACTN4 Species: human
 Synonyms: FSGS, FSGS1, ACTININ-4,  Locus: 19q13 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI 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, Jul 2008]
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization
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Follicle stages
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Phenotypes
Mutations 0 mutations
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Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Dec. 20, 2012, 11:31 a.m. by: hsueh   email:
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last update: Dec. 20, 2012, 11:31 a.m. by: hsueh    email:



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