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For Research Use Only. Not For Clinical Use.


Background

This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Erythroid cells, Inhibitory neurons, Horizontal cells, Excitatory neurons)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (HEL, K-562, U-937)

Interaction

Composed of nonhomologous chains, alpha and beta, which aggregate to form dimers, tetramers, and higher polymers.

Molecular function

Actin capping, Actin-binding

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