LP35571-6
NIPBL gene
Active
Description
The NIPBL gene (Nipped-B homolog (Drosophila)) [HGNC Gene ID:28862] is located on chromosome 5p13.2. This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:25836] 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
- NIPBL gene
- Part Display Name
- NIPBL gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-03-29
- Construct for LOINC Short Name
- NIPBL 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/$lookup?system=http: //loinc.org&code=LP35571-6 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP35571-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NIPBL 基因 Synonyms: Bruk-de Lange 综合征; |
| et-EE | Estonian (Estonia) | NIPBL geen |
| es-ES | Spanish (Spain) | Gen NIPBL |
| it-IT | Italian (Italy) | NIPBL, gene Synonyms: Gene NIPBL |
| tr-TR | Turkish (Turkey) | NIPBL geni |
| ru-RU | Russian (Russian Federation) | NIPBL ген |
| nl-NL | Dutch (Netherlands) | NIPBL-gen Synonyms: NIPBL 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://