Gene: GPT2
Alternate names for this Gene: ALT2|GPT 2|MRT49|NEDSPM
Gene Summary: This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 16
Location in Chromosome : 16q11.2
Description of this Gene: glutamic--pyruvic transaminase 2
Type of Gene: protein-coding
rs1437184398 in
GPT2 gene and
Dysmorphic features
PMID 29226631 2018 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
PMID 27601654 2016 Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
PMID 28130718 2017 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.
PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.
PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
rs786203999 in
GPT2 gene and
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
rs1437184398 in
GPT2 gene and
Movement Disorders
PMID 29226631 2018 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
PMID 27601654 2016 Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
PMID 28130718 2017 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.
PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.
PMID 25758935 2015 Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.