NDUFB11

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Mitochondrial disorder with complex I deficiency

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Mitochondrial disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Paediatric or syndromic cardiomyopathy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Possible mitochondrial disorder - nuclear genes

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

• Microphthalmia with linear skin defects syndrome

  0.73

• linear skin defects with multiple congenital anomalies 3

  0.69

• mitochondrial complex I deficiency

  0.67

• type 2 diabetes mellitus

  0.61

• diabetes mellitus

  0.58

• histiocytoid cardiomyopathy

  0.57

• neurodegenerative disease

  0.50

• mitochondrial complex I deficiency, nuclear type 30

  0.49

• NDUFB11-related disorders

  0.45

• polycystic ovary syndrome

  0.42

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

Protein function (UniProt)