ArticleMammalian genome : official journal of the International Mammalian Genome Society1998
Structure of the human biotinidase gene.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Guideline
- Novel mutations cause biotinidase deficiency in Turkish children.Journal of inherited metabolic disease · 2000Trial
- Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.Journal of inherited metabolic disease · 2000Trial
- Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency.International journal of molecular sciences · 2026Article
- Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.Biomedicines · 2025Article
- Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.BMC pediatrics · 2025Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.Molecular genetics and metabolism reports · 2020Article
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.Pediatric health, medicine and therapeutics · 2020Review
- Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.Molecular genetics and metabolism reports · 2016Article
- First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.Molecular genetics and metabolism reports · 2016Article
- Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.European journal of pediatrics · 2015Article
- First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.Molecular genetics and metabolism reports · 2015Article
- Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.Neurobiology of disease · 2012Article
- Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.Molecular genetics and metabolism · 2011Article
- High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.Journal of inherited metabolic disease · 2010Article
- Profound biotinidase deficiency: a rare disease among native Swedes.Journal of inherited metabolic disease · 2010Article
- Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.Journal of inherited metabolic disease · 2010Article
- Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.Journal of inherited metabolic disease · 2009Article
- Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.The Journal of biological chemistry · 2008Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Biotinidase cleaves biotin from biocytin, thereby recycling the vitamin. We have determined the structure of the human biotinidase gene. A genomic clone, containing three exons that code for the mature enzyme, was obtained by screening a human genomic bacteriophage library with the biotinidase cDNA by plaque hybridization. To obtain a clone containing the most 5' exon of the biotinidase cDNA, a human PAC library by PCR was screened. The human biotinidase gene is organized into four exons and spans at least 23 kb. The 5'-flanking region of exon 1 contains a CCAAT element, three initiator sequences, an octamer sequence, three methylation consensus sites, two GC boxes, and one HNF-5 site, but has no TATA element. The region from nt -600 to +400 has features of a CpG island and resembles a housekeeping gene promoter. The structure and sequence of this gene are useful for identifying and characterizing mutations that cause biotinidase deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.