NUBP2

Chr 16

NUBP iron-sulfur cluster assembly factor 2, cytosolic

Also known as: CFD1, CIAO6, NBP 2

NCBI Gene: 10101 ENSG00000095906 UniProt: Q9Y5Y2

This protein is an ATP and metal-binding component of the cytosolic iron-sulfur protein assembly machinery, functioning as a heterotetramer with NUBP1 to transfer iron-sulfur clusters to target proteins and regulate cilium formation. Mutations cause autosomal recessive multiple mitochondrial dysfunctions syndrome, typically presenting in infancy with severe neurodegeneration, developmental delay, and multi-organ involvement. The gene shows tolerance to loss-of-function variants (pLI 0.0009), consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.20

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)