BTD Chromosome 3
Biotinidase
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What This Gene Does
The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase 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 isoforms have been described. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Vanin family
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000169814
Associated Conditions (11)
Biotinidase deficiency
BTD-related disorder
Inborn genetic diseases
Optic neuropathy
Possible mitochondrial disorder - nuclear genes
Intellectual disability
Cryptorchidism
Global developmental delay
Generalized hypotonia
Macrocephaly
Colon adenocarcinoma
Key Variants
RS1050035768
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency, Biotinidase deficiency
Health Risk
RS112195009
Conflicting classifications of pathogenicity
Biotinidase deficiency, BTD-related disorder, Biotinidase deficiency
Health Risk
RS1190721481
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency
Health Risk
RS1279500513
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency
Health Risk
RS13073139
Conflicting classifications of pathogenicity
Biotinidase deficiency, Inborn genetic diseases, Biotinidase deficiency
Health Risk
RS13078881
Conflicting classifications of pathogenicity
Biotinidase deficiency, Inborn genetic diseases, BTD-related disorder
Health Risk
RS137877018
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency
Health Risk
RS1385213836
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency
Health Risk
RS144575084
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency
Health Risk
RS144717999
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency
Health Risk
RS146011150
Conflicting classifications of pathogenicity
Biotinidase deficiency, Intellectual disability, Inborn genetic diseases
Health Risk
RS146600671
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency, Biotinidase deficiency
Health Risk
All Variants (260)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587783005 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS587783008 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS749162799 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS750363004 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS750965140 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS766476582 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS773137513 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS780874850 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Biotinidase deficiency |
| RS80338685 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Intellectual disability, Inborn genetic diseases |
| RS80338686 | Health Risk | Pathogenic/Likely pathogenic | Biotinidase deficiency, Inborn genetic diseases, BTD-related disorder |