LP71410-2
BTD gene
Active
Description
The BTD gene (biotinidase) [HGNC Gene ID:1122] is located on chromosome 3p25. 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] [NCBI Gene ID:686] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- BTD gene
- Part Display Name
- BTD gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- BTD gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BTD 基因 Synonyms: biotinidase gene; |
| et-EE | Estonian (Estonia) | BTD geen |
| es-ES | Spanish (Spain) | Gen BTD |
| it-IT | Italian (Italy) | BTD, gene Synonyms: Gene BTD |
| tr-TR | Turkish (Turkey) | BTD geni |
| ru-RU | Russian (Russian Federation) | BTD ген |
| nl-NL | Dutch (Netherlands) | BTD-gen Synonyms: BTD gen |
| fr-FR | French (France) | BTD gène |
| el-GR | Greek (Greece) | Γονίδιο BTD Synonyms: Γονίδιο BTD |
| pl-PL | Polish (Poland) | BTD gen Synonyms: Gen BTD; |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://