LP188497-4

GNMT gene

Active

Descriptions

At least three mutations (L49P, H176N and N140S) in the GNMT gene are known to reduced levels of glycine N-methyltransferase, which leads to hypermethioninemia in affected individuals. Certain familial variations in the GNMT gene have been associated with an increased risk of liver and prostate cancers.[MedlinePlus Gene: GNMT] Source: Regenstrief LOINC

The GNMT gene (glycine N-methyltransferase) [HGNC Gene ID:4415] is located on chromosome 6p12. The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. The encoded protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). [provided by RefSeq, Oct 2008] [NCBI Gene ID:27232] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

GNMT gene

Part Display Name

GNMT gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-01-05

Construct for LOINC Short Name

GNMT

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=LP188497-4

Language Variants Get Info

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://loinc.org/license for the full LOINC copyright and license.