Property Summary

NCBI Gene PubMed Count 43
PubMed Score 35.08
PubTator Score 442.39

Knowledge Summary


No data available


  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma 1.500 2.7e-05
osteosarcoma -2.717 2.3e-08
medulloblastoma, large-cell 1.400 1.5e-04
pancreatic ductal adenocarcinoma liver m... -1.312 2.8e-03
lung cancer 1.700 4.2e-02
pilocytic astrocytoma 1.100 5.9e-07
gastric carcinoma -1.300 4.0e-02
ovarian cancer -1.300 2.4e-08
pituitary cancer 1.600 9.1e-05

Protein-protein Interaction (1)

Gene RIF (20)

25754625 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.
25423671 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.
25174816 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.
23481307 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.
22911723 loss of overall biotinidase expression is a novel marker for thyroid cancer aggressiveness.
20556795 140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency, are reported.
20549359 High frequencies of biotinidase mutations may explain the high incidence of biotinidase deficiency in Hungary.
20539236 Mutations in biotinidase is associated with biotinidase deficiency.
20532819 Plasma BTD activity increases in hepatic glycogen storage disease patients.
20224900 Report incidence of profound biotinase deficiency in Swedish newborns and adoptive immigrant children.
19806568 12 patients with multiple carboxylase deficiency, six mutations were found in the BT gene and 4 in the HLCS gene, including 5 novel mutations.
19757147 Four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation
19728141 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
18645204 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.
18479898 Posttranslational modification of histones by biotinylation can be catalyzed by biotinidase; role of this function is ambiguous.
17185019 21 different mutations were identified in 49 patients, including four novel mutations. Ten mutations proved to be unique to the Hungarian population.
15776412 analysis of mutations in biotinidase deficiency
12618081 Observational study of genetic testing. (HuGE Navigator)
12359137 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
11668630 review of mutations causing biotinidase deficiency

AA Sequence


Text Mined References (45)

PMID Year Title
25754625 2015 Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
25423671 2015 Mutations in BTD gene causing biotinidase deficiency: a regional report.
25174816 2014 Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23481307 2014 Biotinidase deficiency: novel mutations in Algerian patients.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22911723 2012 Biotinidase is a novel marker for papillary thyroid cancer aggressiveness.
21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
20556795 2010 Analysis of mutations causing biotinidase deficiency.
20549359 2010 High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
20539236 2010 Technical standards and guidelines for the diagnosis of biotinidase deficiency.
20532819 2010 Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
20224900 2010 Profound biotinidase deficiency: a rare disease among native Swedes.
19806568 2009 [Gene mutation analyses in Chinese children with multiple carboxylase deficiency].
19757147 2009 High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.
19728141 2009 Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
18645204 2008 Profound biotinidase deficiency in a child with predominantly spinal cord disease.
18479898 2008 Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase.
17185019 2007 Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16502470 2006 Human colostrum: identification of minor proteins in the aqueous phase by proteomics.
16341674 2005 Transcriptome analysis of human gastric cancer.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
15776412 2005 Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12618081 2003 Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12359137 Seventeen novel mutations that cause profound biotinidase deficiency.
11668630 2001 Mutations in BTD causing biotinidase deficiency.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10655158 2000 Examination of the signal peptide region of human biotinidase using a baculovirus expression system.
10206677 1998 Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
9654207 1998 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
9530634 1998 Structure of the human biotinidase gene.
9396567 1997 Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
9099842 1997 Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8001986 1994 Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.
7550325 1995 Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
7509806 1994 Human serum biotinidase. cDNA cloning, sequence, and characterization.
3930841 1985 Biotinidase deficiency: a novel vitamin recycling defect.
1679665 1991 Enkephalin hydrolysis by human serum biotinidase.