BOLA3

Chr 2

bolA family member 3

Also known as: MMDS2

NCBI Gene: 388962 ENSG00000163170 UniProt: Q53S33

The protein is essential for iron-sulfur cluster production required for maturation of lipoate-containing 2-oxoacid dehydrogenases and assembly of mitochondrial respiratory chain complexes. Mutations cause multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, inherited in an autosomal recessive pattern. The pathogenic mechanism involves dominant-negative effects disrupting normal mitochondrial function.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMultiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.06

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429