RecName: Full=Actin, alpha skeletal muscle; AltName: Full=Alpha-actin- - Protein

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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. [Neuromuscul Disord. 2024]
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, et al. Neuromuscul Disord. 2024 Jan; 34:32-40. Epub 2023 Nov 30.
Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy. [Hum Mol Genet. 2024]
Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.
Liu Y, Lin W. Hum Mol Genet. 2024 Jan 20; 33(3):233-244.
Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. [Am J Pathol. 2023]
Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
Tinklenberg JA, Slick RA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, et al. Am J Pathol. 2023 Oct; 193(10):1548-1567. Epub 2023 Jul 5.

RefSeq genomic sequence
See the genomic reference sequence for the ACTA1 gene (NG_006672.1).
RefSeq protein
See the reference protein sequence for actin, alpha skeletal muscle (NP_001091.1).

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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Actin, alpha skeletal muscle; AltName: Full=Alpha-actin-1; Contain...
RecName: Full=Actin, alpha skeletal muscle; AltName: Full=Alpha-actin-1; Contains: RecName: Full=Actin, alpha skeletal muscle, intermediate form; Flags: Precursor
gi|61218043|sp|P68133.1|ACTS_HUMAN

Protein
Papuloerythroderma of Ofuji - StatPearls
Papuloerythroderma of Ofuji - StatPearls

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