Human Kelch repeat and BTB domain-containing protein 13 ELISA Kit | KBTBD13 elisa kit

Human Kelch repeat and BTB domain-containing protein 13 ELISA Kit

Cat. Num. AAA288213

• Gene Names: KBTBD13; NEM6; HCG1645727
• Reactivity: Human
• Synonyms: Kelch repeat and BTB domain-containing protein 13; Human Kelch repeat and BTB domain-containing protein 13 ELISA Kit; KBTBD13 elisa kit

• Reactivity: Human
• Specificity: This assay recognizes recombinant and natural human Kelch repeat and BTB domain-containing protein 13. No significant cross-reactivity or interference was
• Sequence Length: 458

• Assay Type: Sandwich
• Detection Range: 78-5000 pg/ml
• Sensitivity: 39 pg/mL
• Intra-Assay CV: <=6.9%
• Inter-Assay CV: <=11.5%
• Recovery: 97%
• Preparation and Storage: For long term storage, please store the entire kit at -20 degree C.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for KBTBD13 elisa kit

Principle of the Assay: The microtiter plate provided in this kit has been pre-coated with an antibody specific to Kelch repeat and BTB domain-containing protein 13. Standards or samples are then added to the appropriate microtiter plate wells with a biotin-conjugated polyclonal antibody preparation specific for Kelch repeat and BTB domain-containing protein 13 and Avidin conjugated to Horseradish Peroxidase (HRP) is added to each microplate well and incubated. Then a TMB substrate solution is added to each well. Only those wells that contain Kelch repeat and BTB domain-containing protein 13, biotin-conjugated antibody and enzyme-conjugated Avidin will exhibit a change in color. The enzyme-substrate reaction is terminated by the addition of a sulphuric acid solution and the color change is measured spectrophotometrically at a wavelength of 450 nm +/- 2 nm. The concentration of Kelch repeat and BTB domain-containing protein 13 in the samples is then determined by comparing the O.D. of the samples to the standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 157384932
• NCBI GeneID: 390594
• NCBI Accession #: NP_001094832.1
• NCBI GenBank Nucleotide #: NM_001101362.2
• UniProt Accession #: C9JR72
• Molecular Weight: 49,485 Da
• NCBI Official Full Name: kelch repeat and BTB domain-containing protein 13
• NCBI Official Synonym Full Names: kelch repeat and BTB domain containing 13
• NCBI Official Symbol: KBTBD13
• NCBI Official Synonym Symbols: NEM6; HCG1645727
• NCBI Protein Information: kelch repeat and BTB domain-containing protein 13
• UniProt Protein Name: Kelch repeat and BTB domain-containing protein 13
• Protein Family: Kelch repeat and BTB domain-containing protein
• UniProt Gene Name: KBTBD13
• UniProt Entry Name: KBTBD_HUMAN

NCBI Description

The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

Uniprot Description

KBTBD13: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. Defects in KBTBD13 are the cause of nemaline myopathy type 6 (NEM6). A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over.

Chromosomal Location of Human Ortholog: 15q22.31

Cellular Component: cytoplasm

Molecular Function: ubiquitin-protein ligase activity

Biological Process: protein ubiquitination

Disease: Nemaline Myopathy 6