GPT2 gene

glutamic--pyruvic transaminase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Apr 2015]

From UniProt:

Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.

From NCBI Gene:

  • Mental retardation, autosomal recessive 49

From UniProt:

Mental retardation, autosomal recessive 49 (MRT49): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT49 patients show a developmental encephalopathy characterized by rapid onset of failure to thrive and microcephaly, as well as profoundly delayed development. [MIM:616281]

Cytogenetic Location: 16q11.2, which is the long (q) arm of chromosome 16 at position 11.2

Molecular Location: base pairs 46,884,380 to 46,931,297 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q11.2, which is the long (q) arm of chromosome 16 at position 11.2
  • ALT2
  • GPT 2
  • MRT49