Aliases

• ACTININ-4
• ACTN4
• Actinin Alpha 4
• Alpha-Actinin-4
• FSGS
• FSGS1
• Focal Segmental Glomerulosclerosis 1
• Non-Muscle Alpha-Actinin 4

Description

From NCBI Gene: 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]

Attributes

QA State

Under Review

Type

Protein

HGNC Name

ACTN4