LP71430-0
LMX1B gene
Active
Description
The LMX1B gene (LIM homeobox transcription factor 1, beta) [HGNC Gene ID:6654] is located on chromosome 9q33.3. This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] [NCBI Gene ID:4010] 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
- LMX1B gene
- Part Display Name
- LMX1B gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- LMX1B 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) | LMX1B 基因 Synonyms: LMX1.2; |
| et-EE | Estonian (Estonia) | LMX1B geen |
| es-ES | Spanish (Spain) | Gen LMX1 |
| it-IT | Italian (Italy) | LMX1B, gene Synonyms: Gene LMX1B |
| tr-TR | Turkish (Turkey) | LMX1B geni |
| ru-RU | Russian (Russian Federation) | LMX1B ген |
| nl-NL | Dutch (Netherlands) | LMX1B-gen Synonyms: LMX1B gen |
| fr-FR | French (France) | LMX1B gène |
| pl-PL | Polish (Poland) | LMX1B gen Synonyms: Gen LMX1B |
| el-GR | Greek (Greece) | Γονίδιο LMX1B Synonyms: Γονίδιο LMX1B |
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://