Version 2.78

Description

The MAPT gene (microtubule-associated protein tau) [HGNC Gene ID:6893] is located on chromosome 17q21.1. This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4137] 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
MAPT gene
Part Display Name
MAPT gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-30
Construct for LOINC Short Name
MAPT gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35583-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35583-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MAPT 基因
Synonyms: DDPAC;FLJ31424;FTDP-17;G蛋白 beta1/gamma2 亚单位-交互因子 1;G蛋白 β1/γ2 亚单位-交互因子 1;MAPTL;MSTD;MTBT1;MTBT2;TAU 基因;微管相关蛋白 tau;抑制解除-痴呆-帕金森病-肌肉萎缩复合体;抑制解除-痴呆-帕金森病-肌萎缩复合体;抑制解除-痴呆-帕金森神经机能障碍-肌肉萎缩复合体;抑制解除-痴呆-帕金森神经机能障碍-肌萎缩复合体;抑制解除-痴呆-帕金森综合征-肌萎缩复合体;抑制解除-痴呆-震颤性麻痹-肌肉萎缩复合体;抑制解除-痴
et-EE Estonian (Estonia) MAPT geen
es-ES Spanish (Spain) Gen MAPT gene
it-IT Italian (Italy) MAPT, gene
Synonyms: Gene MAPT
tr-TR Turkish (Turkey) MAPT geni
ru-RU Russian (Russian Federation) MAPT ген
nl-NL Dutch (Netherlands) MAPT-gen
Synonyms: MAPT gen