LP62806-2
TGM1 gene
Active
Description
The TGM1 gene (transglutaminase 1) [HGNC Gene ID:11777] is located on chromosome 14q11.2. The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008] [NCBI Gene ID:7051] 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
- TGM1 gene
- Part Display Name
- TGM1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-03-15
- Construct for LOINC Short Name
- TGM1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TGM1 基因 Synonyms: Epidermal Tgase; |
| et-EE | Estonian (Estonia) | TGM1 geen |
| es-ES | Spanish (Spain) | Gen TGM1 |
| it-IT | Italian (Italy) | TGM1, gene Synonyms: Gene TGM1 |
| tr-TR | Turkish (Turkey) | TGM1 geni |
| ru-RU | Russian (Russian Federation) | TGM1 ген |
| nl-NL | Dutch (Netherlands) | TGM1-gen Synonyms: TGM1 gen |
| fr-FR | French (France) | TGM1 gène |
| pl-PL | Polish (Poland) | TGM1 gen Synonyms: Gen TGM1 |
| el-GR | Greek (Greece) | Γονίδιο TGM1 Synonyms: Γονίδιο TGM1 |
LOINC Copyright
Copyright © 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://