LP188496-6

GFM1 gene

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Descriptions

Mutations in the GFM1 gene are associated with combined oxidative phosphorylation deficiency 1 (COXPD1), a mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.[MedlinePlus Gene: GFM1] Source: Regenstrief LOINC

The GFM1 gene (G elongation factor, mitochondrial 1) [HGNC Gene ID:13780] is located on chromosome 3q25. Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008] [NCBI Gene ID:85476] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

GFM1 gene

Part Display Name

GFM1 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-01-05

Construct for LOINC Short Name

GFM1

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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.