LP99726-9
PAX6 gene
Active
Description
The PAX6 gene (paired box 6) [HGNC Gene ID:8620] is located on chromosome 11p13. This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:5080] 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
- PAX6 gene
- Part Display Name
- PAX6 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-03-10
- Construct for LOINC Short Name
- PAX6 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) | PAX6 基因 Synonyms: AN; |
| et-EE | Estonian (Estonia) | PAX6 geen |
| es-ES | Spanish (Spain) | Gen PAX6 |
| it-IT | Italian (Italy) | PAX6, gene Synonyms: Gene PAX6 |
| tr-TR | Turkish (Turkey) | PAX6 geni |
| ru-RU | Russian (Russian Federation) | PAX6 ген |
| nl-NL | Dutch (Netherlands) | PAX6-gen Synonyms: PAX6 gen |
| fr-FR | French (France) | PAX6 gène |
| pl-PL | Polish (Poland) | PAX6 gen Synonyms: Gen PAX6 |
| el-GR | Greek (Greece) | Γονίδιο PAX6 Synonyms: Γονίδιο PAX6 |
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://