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Protein Coding Gene : Sptan1 spectrin alpha, non-erythrocytic 1
Primary Identifier  MGI:98386 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  20740
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables spectrin binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to act upstream of or within actin filament capping. Located in several cellular components, including cuticular plate; fascia adherens; and lateral plasma membrane. Is active in paranodal junction. Is expressed in gut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1).
PHENOTYPE: Homozygous deletion of the exons encoding the CCC region are normal. Mice homozygous for a gene trap allele exhibit embryonic lethality and abnormal nervous system, heart and craniofacial morphology. [provided by MGI curators]
  • synonyms:
  • Sptan1,
  • MGD-MRK-14536,
  • spectrin alpha 2,
  • MGI:1923606,
  • MGD-MRK-14538,
  • spectrin alpha, non-erythrocytic 1,
  • alphaII-spectrin,
  • alpha-fodrin,
  • Spna2,
  • 2610027H02Rik,
  • RIKEN cDNA 2610027H02 gene,
  • Spna-2
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