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FLASH GENE
Symbol AFG3L2 contributors: mct - updated : 01-09-2015
HGNC name AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
HGNC id 315
ASSOCIATED DISORDERS
corresponding disease(s) SCA28 , SPAX5
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
causes a marked reduction in mitochondrial Ca2+ buffering
Susceptibility
Variant & Polymorphism
Candidate gene excellent candidate for motoneuron and cerebellar diseases with early onset unknown etiology
Marker
Therapy target
ANIMAL & CELL MODELS
  • loss of Afg3l2 in mouse embryonic fibroblasts (MEFs) reduces mitochondrial Ca2+ uptake capacity
  • Afg3l2-/- mice resemble patients carrying homozygous mutations, showing a severe neurological syndrome that leads to lethality at P16