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SPTA1

spectrin alpha, erythrocytic 1
2 disorders 1 untyped 1 causative 1q23.1 gene with protein product
HGNC:11272MonarchNCBI Gene 6708ENSG00000163554UniProt P02549OMIM 182860

Aliases: EL2.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Hereditary Spherocytosis causative
mechanism: Red Cell Membrane Protein Deficiency
subtype: HS Type 3 (SPTA1-related)
scoped to subtype: HS Type 3 (SPTA1-related)
Hereditary Elliptocytosis untyped
Causative
mechanism: Red Cell Cytoskeleton Protein Defects
subtype: EL2

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.