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The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. This gene is found near a region of chromosome 4 that has been implicated in facioscapulohumeral muscular dystrophy, but this gene does not appear to be involved in the disease. Two transcript variants encoding different isoforms have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: actinin alpha 2 associated LIM protein; Actinin-associated LIM protein; Alpha-actinin-2-associated LIM protein; enigma homolog; PDZ and LIM domain protein 3; SK-2
基因别名: Actn2lp; AI463105; ALP; PDLIM3
UniProt ID: (Human) Q53GG5, (Rat) Q66HS7, (Mouse) O70209
Entrez Gene ID: (Human) 27295, (Rat) 114108, (Mouse) 53318