IBA57 Antibody, Biotin conjugated

Code CSB-PA722566LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) IBA57 Polyclonal antibody
Uniprot No.
Target Names
IBA57
Alternative Names
C1orf69 antibody; CAF17_HUMAN antibody; Chromosome 1 open reading frame 69 antibody; FLJ12734 antibody; FLJ13849 antibody; IBA57 antibody; IBA57 homolog iron sulfur cluster assembly antibody; IBA57 iron sulfur cluster assembly homolog antibody; IBA57 iron sulfur cluster assembly homolog (S. cerevisiae) antibody; IBA57; S. cerevisiae; homolog of antibody; Iron sulfur cluster assembly factor for biotin synthase and aconitase like antibody; iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins; with a mass of 57kDa antibody; Iron-sulfur cluster assembly factor homolog antibody; Mitochondrial proteins with a mass of 57kDa antibody; MMDS3 antibody; Putative transferase C1orf69 mitochondrial antibody; Putative transferase CAF17; mitochondrial antibody; SPG74 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Putative transferase CAF17, mitochondrial protein (286-356AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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Target Background

Function
Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway.
Gene References into Functions
  1. a patient with infantile-onset optic atrophy and asymptomatic white matter involvement, thus broadening the phenotypic spectrum of biallelic IBA57 mutations. PMID: 30258207
  2. Description of four unrelated patients carrying novel mutations in IBA57; study expands the array of the genotypic variation of IBA57 and delineates the leukodystrophic pattern of IBA57 deficient patients PMID: 27785568
  3. Findings reinforce the suggested specific function of IBA57 in mitochondrial [4Fe-4S] protein maturation and provide additional evidence for its role in hereditary spastic paraplegia PMID: 25609768
  4. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. PMID: 23462291
Involvement in disease
Multiple mitochondrial dysfunctions syndrome 3 (MMDS3); Spastic paraplegia 74, autosomal recessive (SPG74)
Subcellular Location
Mitochondrion.
Protein Families
GcvT family, CAF17 subfamily
Tissue Specificity
Expressed in skin fibroblasts and skeletal muscle (at protein level).
Database Links

HGNC: 27302

OMIM: 615316

KEGG: hsa:200205

STRING: 9606.ENSP00000355672

UniGene: Hs.237017

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