Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

AFG3L2

contributors: mct - updated : 01-09-2015

HGNC name	AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
HGNC id	315

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCA28 , SPAX5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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