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FLASH GENE

Symbol

SLC25A4

contributors: mct - updated : 11-04-2015

HGNC name	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
HGNC id	10990

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PEO2 , CACM2 , MTDPS12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in muscle of FSH myopathy, and mitochondrial dysfunction may thus be initial events in FSHD tumoral         silencing induces oxidative stress and programmed cell death in glioblastoma cells constitutional     --other   dysregulation of acetylation of mitochondrial proteins such as SLC25A4 therefore could be related to changes in mitochondrial function that are associated with insulin resistance.e constitutional     --low   in sporadic inclusion body myositis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy congenital increased expression represent potential therapeutic target in FSHD

ANIMAL & CELL MODELS

Ant1 mice develop mitochondrial myopathy associated with ragged-red fibers and abnormal mitochondria and a hypertrophic cardiopathy