Catalog No.
YHK90001
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Glu335-Gly381
Predicted molecular weight
33.64 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q96AG3
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
TB1, Solute carrier family 25 member 46, SLC25A46
Hereditary Ataxia Overview. PMID: 20301317
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. PMID: 27543974
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. PMID: 36977595
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. PMID: 26168012
Proteomic Identification of the SLC25A46 Interactome in Transgenic Mice Expressing SLC25A46-FLAG. PMID: 34983179
Novel insights into SLC25A46-related pathologies in a genetic mouse model. PMID: 28376086
Insights into the genotype-phenotype correlation and molecular function of SLC25A46. PMID: 30178502
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. PMID: 27390132
Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46. PMID: 29604258
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. PMID: 28934388
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. PMID: 32259769
Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. PMID: 28057766
SLC25A46 promotes mitochondrial fission and mediates resistance to lipotoxic stress in INS-1E insulin-secreting cells. PMID: 36942724
Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46-/- mice. PMID: 31943007
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. PMID: 28376083
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. PMID: 26951855
A Slc25a46 Mouse Model Simulating Age-Associated Motor Deficit, Redox Imbalance, and Mitochondria Dysfunction. PMID: 33277645
Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy. PMID: 36578309
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. PMID: 28558379
Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway. PMID: 31614134
Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease. PMID: 32208444
Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan. PMID: 32140609
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. PMID: 28653766
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report. PMID: 35012485
Light-activated mitochondrial fission through optogenetic control of mitochondria-lysosome contacts. PMID: 35879298
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy. PMID: 27430653
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. PMID: 28637197
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. PMID: 28369803
Genetic locus responsible for diabetic phenotype in the insulin hyposecretion (ihs) mouse. PMID: 32502168
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. PMID: 29656927
Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases. PMID: 33985528
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. PMID: 36061954
Four genetic variants interact to confer susceptibility to atopic dermatitis in Chinese Han population. PMID: 25711310
A genome-wide association study of heat stress-associated SNPs in catfish. PMID: 27476875
Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal. PMID: 19505301
Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. PMID: 16949250
A machine learning approach to unmask novel gene signatures and prediction of Alzheimer's disease within different brain regions. PMID: 33878365
The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan. PMID: 34624274
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. PMID: 22036096
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. PMID: 23042114
Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population. PMID: 21666691
Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis. PMID: 23879873
P-glycoprotein (ABCB1) inhibited network of mitochondrion transport along microtubule and BMP signal-induced cell shape in chimpanzee left cerebrum by systems-theoretical analysis. PMID: 22674380
For research use only. Not for human or drug use.
