LP35583-1
MAPT gene
Active
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
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/$lookup?system=http: //loinc.org&code=LP35583-1 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP35583-1
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | MAPT 基因 Synonyms: DDPAC; |
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 |
LOINC Copyright
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