SUCLG2

Chr 3

succinate-CoA ligase GDP-forming subunit beta

Also known as: G-SCS, GBETA, GTPSCS

NCBI Gene: 8801 ENSG00000172340 UniProt: Q96I99 OMIM: 603922

The GTP-specific beta subunit of succinyl-CoA synthetase functions in the citric acid cycle, coupling the hydrolysis of succinyl-CoA to GTP synthesis and representing the only substrate-level phosphorylation step in the TCA cycle. Mutations cause mitochondrial DNA depletion syndrome, typically presenting in infancy with hypotonia, developmental delay, and progressive neurodegeneration, following autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants, suggesting that complete loss of protein function may be required for disease manifestation.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.50

LOEUF

Mechanism· predicted

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GeneReview available — SUCLG2