LP33144-4
BTK gene
Active
Descriptions
The BTK gene (Bruton agammaglobulinemia tyrosine kinase) [HGNC Gene ID:1133] is located on chromosome Xq21.33-q22. The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] [NCBI Gene ID:695] Source: National Center for Biotechnology Information (NCBI) Gene
Patients with chronic lymphocytic leukemia (CLL) with disease progression treated with ibrutinib has been attributed to histologic transformation or acquired mutations in BTK and PLCG2 genes. PMID: 28049639 Source: PubMed Central
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
- BTK gene
- Part Display Name
- BTK gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-10
- Construct for LOINC Short Name
- BTK gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP33144-4 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33144-4
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BTK 基因 Synonyms: AGMX1; |
| et-EE | Estonian (Estonia) | BTK geen |
| es-ES | Spanish (Spain) | Gen BTK |
| it-IT | Italian (Italy) | BTK, gene Synonyms: Gene BTK |
| tr-TR | Turkish (Turkey) | BTK geni |
| ru-RU | Russian (Russian Federation) | BTK ген |
| nl-NL | Dutch (Netherlands) | BTK-gen Synonyms: BTK gen |
LOINC Copyright
Copyright © 2024 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://