Human Recombinant BTD protein, His Tag (V2LY-0526-LY2419)

Name: Human Recombinant BTD protein, His Tag
SKU: V2LY-0526-LY2419
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Expressed Host

HEK293 Cells

Protein Species

Human

Tag

His Tag

Protein Construction

This product is Human Recombinant BTD protein, His Tag consist of Amino Acid: 1-543 and predicts a molecular mass of 58.2 kDa.

Molecule Mass

58.2 kDa

Verified

HPLC

Sequence

Amino Acid: 1-543

Species

Human

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity

≥95% as determined by SDS-PAGE. ≥85% as determined by SEC-HPLC.

Endotoxin

Please contact us for more information.

Format

Lyophilized

Reconstitution

Allow the vial and reconstitution buffer to equilibrate to room temperature. Briefly centrifuge or tap down the vial to ensure that all lyophilized powder is collected at the bottom of the vial. For the reconstitution of this product, we recommend adding PBS or sterile water to achieve a final antibody concentration of 1 mg/mL. Allow the vial to reconstitute for 10-15 minutes at room temperature with gentle agitation. Avoid vigorous shaking that can cause foaming and antibody denaturation. Aliquot into volumes based on your experiment and store liquid protein at -20°C or -80°C for long time.

Buffer

Lyophilized from sterile PBS

Preservative

None

Storage

Samples are stable for up to twelve months from date of receipt at -20°C to -80°C. Store it under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.

More Infomation

Target

Full Name

biotinidase

Function

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

Biological Process

Biotin metabolic process Source: GO_Central
Central nervous system development Source: ProtInc

Cellular Location

Extracellular space

Involvement in disease

Biotinidase deficiency (BTD deficiency): A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.

Karaoglan, M., Nacarkahya, G., Keskin, M., & Keskin, O. (2021). Immunophenotypic analysis of lymphocyte subsets in newborns with biotinidase deficiency. Pediatric Allergy and Immunology, 32(3), 586-598.

Geng, J., Sun, Y., Zhao, Y., Xiong, W., Zhong, M., Zhang, Y., ... & Yuan, H. (2021). Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient. Molecular Genetics & Genomic Medicine, 9(2), e1591.

Oz, O., Karaca, M., Atas, N., Gonel, A., & Ercan, M. (2021). BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation. Journal of the College of Physicians and Surgeons--Pakistan: JCPSP, 30(7), 780-785.

Funghini, S., Tonin, R., Malvagia, S., Caciotti, A., Donati, M. A., Morrone, A., & la Marca, G. (2020). High frequency of biotinidase deficiency in Italian population identified by newborn screening. Molecular Genetics and Metabolism Reports, 25, 100689.

Canda, E., Uçar, S. K., & Çoker, M. (2020). Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric Health, Medicine and Therapeutics, 11, 127.

Borsatto, T., Sperb-Ludwig, F., Blom, H. J., & Schwartz, I. V. (2019). Effect of BTD gene variants on in vitro biotinidase activity. Molecular genetics and metabolism, 127(4), 361-367.

Hsu, R. H., Chien, Y. H., Hwu, W. L., Chang, I. F., Ho, H. C., Chou, S. P., ... & Lee, N. C. (2019). Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. Orphanet journal of rare diseases, 14(1), 1-6.

Liu, Z., Zhao, X., Sheng, H., Cai, Y., Yin, X., Chen, X., ... & Liu, L. (2018). Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. American journal of medical genetics Part A, 176(3), 589-596.

Murry, J. B., Machini, K., Ceyhan-Birsoy, O., Kritzer, A., Krier, J. B., Lebo, M. S., ... & Waisbren, S. E. (2018). Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Molecular Case Studies, 4(4), a002873.

Borsatto, T., Sperb-Ludwig, F., Lima, S. E., S. Carvalho, M. R., S. Fonseca, P. A., S. Camelo Jr, J., ... & D. Schwartz, I. V. (2017). Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One, 12(5), e0177503.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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