GATD3

Chr 21

glutamine amidotransferase class 1 domain containing 3

Also known as: C21orf33, ES1, GATD3A, GATD3B, GT335, HES1, KNPH, KNPI

NCBI Gene: 8209 ENSG00000160221 UniProt: P0DPI2 OMIM: 601659

GATD3 encodes a mitochondrial protein belonging to the DJ-1/PfpI gene family, though its specific function remains unclear. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene is not highly constrained against loss-of-function variants, consistent with recessive inheritance.

OMIM ResearchSummary from RefSeq

This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.38

LOEUF

Mechanism· predicted