NUBPL

Chr 14

NUBP iron-sulfur cluster assembly factor, mitochondrial

Also known as: C14orf127, IND1, MC1DN21, huInd1

NCBI Gene: 80224 ENSG00000151413 UniProt: Q8TB37

The protein functions as an iron-sulfur cluster transfer protein required for assembly of mitochondrial respiratory chain complex I (NADH dehydrogenase). Mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance, typically presenting with multi-system involvement including neurological, cardiac, and metabolic manifestations. The gene shows minimal constraint against loss-of-function variants (pLI 0.00001), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex I deficiency, nuclear type 21

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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