Girish Mahajan (Editor)

SERAC1

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Aliases
  
SERAC1

Human
  
Mouse

Ensembl
  
ENSG00000122335

Species
  
Human

Entrez
  
84947

External IDs
  
MGI: 2447813 HomoloGene: 41900 GeneCards: SERAC1

Serine active site containing 1 is a protein in humans that is encoded by the SERAC1 gene.

Clinical relevance

Mutations in this gene have been associated to impairment of both mitochondrial function and intracellular cholesterol trafficking. A mutation in this gene has been found in a patient suffering from 3-methylglutaconic aciduria.

Mutations in SERAC1 are associated to MEGDEL syndrome .

References

SERAC1 Wikipedia