about
P688
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathyNemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.Differentiation of human skeletal muscle cells in culture: maturation as indicated by titin and desmin striationEvidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoformsProduction of human skeletal alpha-actin proteins by the baculovirus expression system
P921
description
Protein in Homo sapiens
@de
mammalian protein found in Homo sapiens
@en
protein
@id
protein
@sv
proteinë
@sq
proteïne in Actin, alpha 1, skeletal muscle
@nl
protèin
@ace
protéine
@fr
بروتين في الإنسان العاقل
@ar
name
Actin alpha 1, skeletal muscle
@en
Actin alpha 1, skeletal muscle
@nl
type
label
Actin alpha 1, skeletal muscle
@en
Actin alpha 1, skeletal muscle
@nl
altLabel
ACTA1
@en
Alpha-actin-1
@en
actin, alpha skeletal muscle
@en
nemaline myopathy type 3
@en
prefLabel
Actin alpha 1, skeletal muscle
@en
Actin alpha 1, skeletal muscle
@nl
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ENSP00000355644
ENSP00000355645