LP33180-8
AR gene
Active
Description
The AR gene (androgen receptor) [HGNC Gene ID:644] is located on chromosome Xq12. The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:367] 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
- AR gene
- Part Display Name
- AR gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-16
- Construct for LOINC Short Name
- AR gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP33180-8 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33180-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | AR 基因 Synonyms: AIS; |
| et-EE | Estonian (Estonia) | AR geen |
| es-ES | Spanish (Spain) | Gen AR |
| it-IT | Italian (Italy) | AR, gene Synonyms: Gene AR |
| tr-TR | Turkish (Turkey) | AR geni |
| ru-RU | Russian (Russian Federation) | AR ген |
| nl-NL | Dutch (Netherlands) | AR-gen Synonyms: AR gen |
LOINC Copyright
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