SUCLA2 across dismech

SUCLA2 (succinate-CoA ligase ADP-forming subunit beta) is named by 1 disorder entry.

Normal function

SUCLA2 is the ATP-specific beta subunit of mitochondrial succinyl-CoA synthetase, the substrate-level phosphorylation step of the TCA cycle. The ai-gene-review layer currently ingested by dismech lists 0 core-function terms for SUCLA2: the pinned ingest predates the upstream review of this gene, which is being completed separately, so this page makes no claim about its GO terms yet.

Disease record

The entry that types SUCLA2 as causative is SUCLA2-Related Mitochondrial DNA Depletion Syndrome. Its genetic record is causative and the variant origin is recorded as germline. In the entry the gene sits on the node SUCLA2 Loss of Function, where the variants are recorded as loss of function.

Where the layers meet

The GO processes annotated on the nodes naming SUCLA2 number 0, and the number of GO process terms shared with ai-gene-review by exact identifier is 0, which follows from the ingest gap above rather than from a disagreement.

ClinGen classifies SUCLA2 for 2 diseases, and the ClinGen disease with no matching dismech entry is mitochondrial disease. That is a broader grouping than the entry's own disease, so the entry carries no ClinGen tier.