Version 2.78

Description

The NIPA1 gene (non imprinted in Prader-Willi/Angelman syndrome 1) [HGNC Gene ID:17043] is located on chromosome 15q11.2. This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008] [NCBI Gene ID:123606] 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 Display Name
NIPA1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-01-03
Construct for LOINC Short Name
NIPA1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34974-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34974-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) NIPA1 基因
Synonyms: Prader-Willi/Angelman 综合征 1 之中的非印记基因;Prader-Willi/Angelman 综合征 1 之中的非印记性 (Non-imprinted) 基因;培得-威利及安裘曼氏症候群 1 之中的非印记基因;帕德-维利/安吉曼综合征 1 之中的非印记基因
et-EE Estonian (Estonia) NIPA1 geen
es-ES Spanish (Spain) Gen NIPA1
it-IT Italian (Italy) NIPA1, gene
Synonyms: Gene NIPA1
tr-TR Turkish (Turkey) NIPA1 geni
ru-RU Russian (Russian Federation) NIPA1 ген
nl-NL Dutch (Netherlands) NIPA1-gen
Synonyms: NIPA1 gen