rs553043635

This variant is located in the SPTA1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3; Elliptocytosis 2; not provided

About SPTA1

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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