BTD Chromosome 3

Biotinidase
260 variants 260 Health Risk

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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
RS1050035768 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency, Biotinidase deficiency
RS112195009 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, BTD-related disorder, Biotinidase deficiency
RS1190721481 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1279500513 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS13073139 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases, Biotinidase deficiency
RS13078881 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases, BTD-related disorder
RS137877018 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1385213836 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS144575084 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS144717999 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS146011150 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Intellectual disability, Inborn genetic diseases
RS146600671 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency, Biotinidase deficiency
RS147057169 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS151071780 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency, Inborn genetic diseases
RS1553652171 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1553653070 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1553654190 Health Risk Conflicting classifications of pathogenicity BTD-related disorder, Biotinidase deficiency, BTD-related disorder
RS1559600608 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1575031012 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS181396238 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency, Inborn genetic diseases
RS181743799 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS200337373 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency, Intellectual disability
RS2125504669 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BTD-related disorder, Inborn genetic diseases
RS2471439040 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS2471511997 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS2471518320 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS34885143 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, BTD-related disorder, Biotinidase deficiency
RS367902696 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases, Biotinidase deficiency
RS369316343 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Biotinidase deficiency, Inborn genetic diseases
RS372416959 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS372844636 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS374141881 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397507171 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397507173 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397507176 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases, Biotinidase deficiency
RS397514333 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514354 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514355 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514357 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases, BTD-related disorder
RS397514359 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514361 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514376 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514377 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514380 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514391 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514392 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514422 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514427 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397514429 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency, Biotinidase deficiency
RS397514433 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
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