NUBPL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex I deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex I deficiency

  0.78

• mitochondrial complex I deficiency, nuclear type 21

  0.71

• mitochondrial complex I deficiency, nuclear type 1

  0.62

• inborn mitochondrial metabolism disorder

  0.60

• mitochondrial disease

  0.60

• neurodegenerative disease

  0.53

• hereditary disease

  0.48

• myasthenia gravis

  0.36

• alcohol drinking

  0.32

• nephrotic syndrome

  0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with NUBPL

Curated MONDO disease pages that list NUBPL among their top associated genes.

• inborn mitochondrial metabolism disorderRare