GGTLC1

Chr 20

gamma-glutamyltransferase light chain 1

Also known as: GGTL6, GGTLA3, GGTLA4, dJ831C21.1, dJ831C21.2

NCBI Gene: 92086 ENSG00000149435 UniProt: Q9BX51 OMIM: 612338

The protein encoded by this gene is homologous to the light chain of gamma-glutamyl transpeptidase and is involved in glutathione metabolism, though it lacks the transmembrane domain found in the canonical GGT1 enzyme. Mutations cause autosomal recessive glutathione synthetase deficiency with hemolytic anemia, metabolic acidosis, and neurological complications including intellectual disability and seizures. The gene shows low constraint to loss-of-function variation, which is consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.68

LOEUF

Multiple*

Mechanism· predicted