FBXL4 across dismech

FBXL4 (F-box and leucine rich repeat protein 4) is named by 1 disorder entry.

Normal function

FBXL4 is the substrate-recognition subunit of an SCF ubiquitin ligase on the mitochondrial outer membrane that degrades the mitophagy receptors BNIP3 and NIX. The ai-gene-review layer currently ingested by dismech lists 0 core-function terms for FBXL4: 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 FBXL4 as causative is FBXL4-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 FBXL4 Loss of Function, where the variants are recorded as loss of function.

Where the layers meet

The GO processes annotated on the nodes naming FBXL4 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 FBXL4 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.