Human Biotinidase(BTD) ELISA kit

1. BTD mutation is associated with biotinidase deficiency. PMID: 29995633
2. Biotinidase deficiency is reviewed. PMID: 26577040
3. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). PMID: 27378695
4. The history and genetic basis of biotinidase deficiency has been presented. (Review) PMID: 26456103
5. 48 novel alterations in the biotinidase gene have been identified; correlating the individual's serum enzymatic activity with genotype, were able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals PMID: 26810761
6. The common biotinidase gene mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3% of all the mutant alleles in the Turkish population. PMID: 25754625
7. Summary of the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey. PMID: 25423671
8. Three novel pathogenic variants in BTD gene were identified in a cohort of Brazilian patients with biotinidase deficiency and control suggesting an allelic heteregeneity of the condition. PMID: 25174816
9. Report incidence of profound biotinase deficiency in Swedish newborns and adoptive immigrant children. PMID: 20224900
10. High frequencies of biotinidase mutations may explain the high incidence of biotinidase deficiency in Hungary. PMID: 20549359
11. Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3 in Biotinidase deficiency patients and families. PMID: 23481307
12. Four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation PMID: 19757147
13. Six different mutations in the biotinidase gene are identified in biotinidase in four Chinese patients; determination of biotinidase activities are performed for selective screening of biotinidase deficiency PMID: 19728141
14. loss of overall biotinidase expression is a novel marker for thyroid cancer aggressiveness. PMID: 22911723
15. Plasma BTD activity increases in hepatic glycogen storage disease patients. PMID: 20532819
16. 140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency, are reported. PMID: 20556795
17. Mutations in biotinidase is associated with biotinidase deficiency. PMID: 20539236
18. 12 patients with multiple carboxylase deficiency, six mutations were found in the BT gene and 4 in the HLCS gene, including 5 novel mutations. PMID: 19806568
19. review of mutations causing biotinidase deficiency PMID: 11668630
20. report of 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene PMID: 12359137
21. analysis of mutations in biotinidase deficiency PMID: 15776412
22. 21 different mutations were identified in 49 patients, including four novel mutations. Ten mutations proved to be unique to the Hungarian population. PMID: 17185019
23. Posttranslational modification of histones by biotinylation can be catalyzed by biotinidase; role of this function is ambiguous. PMID: 18479898
24. This case indicates that biotinidase deficiency should be included in the differential diagnosis of subacute myelopathy and emphasizes the importance of a prompt diagnosis to prevent irreversible neurological damage. PMID: 18645204

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HGNC: 1122

OMIM: 253260

KEGG: hsa:686

STRING: 9606.ENSP00000306477

UniGene: Hs.444197