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Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial (GATD3)
- Target
- GATD3
- Molecular classification
- Enzyme (based on domain annotation: amidotransferase-like domain), DJ-1/PfpI gene family (structural classification)
01
Overview
Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial (GATD3) is a mitochondrial protein encoded by the GATD3 gene in humans. It is a member of the DJ-1/PfpI gene family, and contains a glutamine amidotransferase-like domain, suggesting possible involvement in amino acid metabolism or mitochondrial function. GATD3 is notably overexpressed in the fetal brain in Down syndrome and has reported associations with breast cancer and granulomatous orchitis. The exact biological functions and molecular activities of GATD3 in humans remain largely uncharacterized, and it is not currently a known therapeutic target or receptor[1][2][3][5][6].
- Other names
- GATD3ES1GT335HES1KNPHKNPIC21orf33GATD3AGATD3BD21S2048EKNP-IKNP-IaPutative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrialTestis secretory sperm-binding protein Li 237EChromosome 21 open reading frame 33ES1 protein homolog, mitochondrialKeio novel protein IProtein GT335Protein HES1
02
Biological functions
Likely involved in mitochondrial processes; however, specific biochemical function in humans is not well-characterizedBased on family/domain: possible role in amino acid metabolism (inferred from amidotransferase-like domain)
03
Disease associations
Down Syndrome (overexpressed in fetal Down syndrome brain; may be a marker)Breast cancer (reported association)Granulomatous orchitis (reported association)
04
Biomarkers
Overexpression in the brain tissue of Down syndrome-affected fetuses; may be a research biomarker for Down syndromeNo clinical biomarkers for patient selection or efficacy monitoring are established.
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