Sign in or Register   Sign in or Register
  |  

Mouse Anti-BTD Recombinant Antibody (CBYY-2026) (CBMAB-2375-YY)

This product is mouse antibody that recognizes BTD. The antibody CBYY-2026 can be used for immunoassay techniques such as: ELISA, IP, WB
See all BTD antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYY-2026
Antibody Isotype
IgG1, κ
Application
ELISA, IP, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
biotinidase
Introduction
The protein encoded by this gene functions to recycle protein-Bovineund biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carBovinexylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforMouse have been described. [provided by RefSeq, Aug 2013]
Entrez Gene ID
686
UniProt ID
P43251
Alternative Names
Biotinidase; EC 3.5.1.12; Biotinase; EC 3.5.1;
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.

Ask a question We look forward to hearing from you.
0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Loading...
Have you used Mouse Anti-BTD Recombinant Antibody (CBYY-2026)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon $30 eGift Card
Submit a review
Loading...
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.).

Online Inquiry

Documents

Contact us

  • Tel: (USA)
  • (UK)
  • Fax:
  • Email:

Submit A Review

Go to
Compare