Gene: NUBPL

Alternate names for this Gene: C14orf127|IND1|MC1DN21|huInd1

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q12

Description of this Gene: nucleotide binding protein like

Type of Gene: protein-coding

rs113235453 in NUBPL gene and Heart failure PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs201430951 in NUBPL gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs397515440 in NUBPL gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

rs118161496 in NUBPL gene and Movement Disorders PMID 23828044 2013 Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.

PMID 19752196 2009 Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.

PMID 12805096 2003 Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 10214753 1999 Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 18497740 2008 The iron-sulphur protein Ind1 is required for effective complex I assembly.

PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 19336460 2009 Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

PMID 22072591 2012 Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

PMID 22826544 2012 Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

PMID 21766414 2011 The molecular basis of human complex I deficiency.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 22972949 2012 Complex I deficiency: clinical features, biochemistry and molecular genetics.

rs397515440 in NUBPL gene and Muscle hypotonia PMID 23828044 2013 Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.

PMID 12805096 2003 Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

PMID 22826544 2012 Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

PMID 22072591 2012 Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 10214753 1999 Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.

PMID 18497740 2008 The iron-sulphur protein Ind1 is required for effective complex I assembly.

PMID 21766414 2011 The molecular basis of human complex I deficiency.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PMID 19336460 2009 Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

PMID 23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

PMID 22972949 2012 Complex I deficiency: clinical features, biochemistry and molecular genetics.

PMID 19752196 2009 Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.

rs113235453 in NUBPL gene and Reduced ejection fraction PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs73257280 in NUBPL gene and Velopharyngeal dysfunction PMID 29855589 2018 GWAS reveals loci associated with velopharyngeal dysfunction.

rs113235453 in NUBPL gene and heart rate PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).