Search for a gene
NUBPL - NUBP iron-sulfur cluster assembly factor, mitochondrial
- Synonym(s) : FLJ12660, huInd1, IND1, iron-sulfur protein required for NADH dehydrogenase
- Previous symbols and names : C14orf127, chromosome 14 open reading frame 127, nucleotide binding protein-like
- Type : gene with protein product
- Chromosomal location : 14q12
- OMIM: 613621
- HGNC: 20278
- UniProtKB: Q8TB37
- Genatlas: NUBPL
- GenCC: NUBPL
- Ensembl: ENSG00000151413
- IUPHAR-DB: -
- Reactome: Q8TB37
- LOVD: NUBPL
Diseases list
- Disease-causing germline mutation(s) in Isolated complex I deficiency
ORPHA:2609 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.