LP66643-5
CILD2 gene
Active
Description
The CILD2 gene (dynein, axonemal, assembly factor 3) gene is located on chromosome 19q13.4. The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:352909] 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
- CILD2 gene
- Part Display Name
- CILD2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-02-05
- Construct for LOINC Short Name
- CILD2 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.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CILD2 基因 Synonyms: primary ciliary dyskinesia-2; |
| et-EE | Estonian (Estonia) | CILD2 geen |
| es-ES | Spanish (Spain) | Gen CILD2 |
| it-IT | Italian (Italy) | CILD2, gene Synonyms: Gene CILD2 |
| tr-TR | Turkish (Turkey) | CILD2 geni |
| ru-RU | Russian (Russian Federation) | CILD2 ген |
| nl-NL | Dutch (Netherlands) | CILD2-gen Synonyms: CILD2 gen |
| fr-FR | French (France) | CILD2 gène |
| pl-PL | Polish (Poland) | CILD2 gen Synonyms: Gen CILD2; |
| el-GR | Greek (Greece) | Γονίδιο CILD2 Synonyms: Γονίδιο CILD2 |
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://