Version 2.80

Description

The APTX gene (aprataxin) [HGNC Gene ID:15984] is located on chromosome 9p13.3. This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] [NCBI Gene ID:54840] 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
APTX gene
Part Display Name
APTX gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-30
Construct for LOINC Short Name
APTX gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35575-7
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35575-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) APTX 基因
Synonyms: AOA;AOA1;Aprataxin 基因;AXA1;EAOH;EOAHA;FHA-HIT;FLJ20157;HGNC:902;MGC1072;共济失调 1, 伴有低清蛋白血症的早期发病;共济失调 1, 伴有低白蛋白血症的早期发病;共济失调 1, 伴有血清蛋白减少的早期发病;共济失调 1, 伴有血白蛋白减少的早期发病
es-ES Spanish (Spain) Gen APTX
it-IT Italian (Italy) APTX, gene
Synonyms: Gene APTX
et-EE Estonian (Estonia) APTX geen
tr-TR Turkish (Turkey) APTX geni
ru-RU Russian (Russian Federation) APTX ген
nl-NL Dutch (Netherlands) APTX-gen
Synonyms: APTX gen
el-GR Greek (Greece) Γονίδιο APTX
Synonyms: Γονίδιο APTX