The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene.
Categories
Primary Antibodies
Clonality
polyclonal
Description
May play some role in mitochondrial processes.
Host
Rabbit
Immunogen
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Isotype
IgG
Molecular Weight
20 kDa
Reactivity
Human, Mouse, Rat
Regulatory
RUO
Uniprot
Q9H6K4
Gene Id
80207
Research Area
Neuroscience
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)