Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 686
MIM: 609019
HGNC: 1122
Ensembl: ENSG00000169814
Variants:
dbSNP: 686
ClinVar: 686
TCGA: ENSG00000169814
COSMIC: BTD
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37751899 | 2024 | Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin. | 0 |
| 38299772 | 2024 | Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory. | 1 |
| 37751899 | 2024 | Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin. | 0 |
| 38299772 | 2024 | Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory. | 1 |
| 37027963 | 2023 | Biotinidase deficiency: What have we learned in forty years? | 2 |
| 37119528 | 2023 | Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience. | 1 |
| 37027963 | 2023 | Biotinidase deficiency: What have we learned in forty years? | 2 |
| 37119528 | 2023 | Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience. | 1 |
| 34271776 | 2021 | BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation. | 1 |
| 34271776 | 2021 | BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation. | 1 |
| 31337602 | 2019 | Effect of BTD gene variants on in vitro biotinidase activity. | 2 |
| 31337602 | 2019 | Effect of BTD gene variants on in vitro biotinidase activity. | 2 |
| 29995633 | 2018 | Single center experience of biotinidase deficiency: 259 patients and six novel mutations. | 8 |
| 29995633 | 2018 | Single center experience of biotinidase deficiency: 259 patients and six novel mutations. | 8 |
| 26456103 | 2016 | Biotinidase deficiency and our champagne legacy. | 8 |
Citation
Dessen P
BTD (biotinidase)
Atlas Genet Cytogenet Oncol Haematol. 2013-05-01
Online version: http://atlasgeneticsoncology.org/gene/53260/btd
