alpha-actinin-3; alpha-actinin skeletal muscle isoform 3; F-actin cross-linking protein (ACTN3)

Function

• F-actin cross-linking protein thought to anchor actin to a variety of intracellular structures
• ACTN3 is a bundling protein
• interacts with MYOZ1

Structure

• homodimer; antiparallel
• also forms heterodimers with ACTN2
• belongs to the alpha-actinin family
• contains 1 actin-binding domain
• contains 2 CH (calponin-homology) domains
• contains 2 EF-hand domains
• contains 4 spectrin repeats

Expression

• expressed only in a subset of type 2 skeletal muscle fibers

Polymorphism

• ~18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577; the absence of a functional ACTN3 expression is not correlated with a disease state

More general terms

• alpha-actinin (ACTN)

Database

• UniProt: http://www.uniprot.org/uniprot/Q08043.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=89
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:89
• OMIM: https://mirror.omim.org/entry/102574