SDHB

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The SDHB gene at 1p36.13 codes for the 280 amino acid pro-peptide to the iron - sulfur succinate dehydrogenase complex subunit B, one of four peptide chains that make up succinate dehydrogenase an enzyme located in the inner mitochondrial membrane that catalyzes the oxidation of succinate to fumarate.

Mutations cause:

  • Pheochromocytoma (PCC) - OMIM:171300
    • Amino acid at 29 A → AQ
    • Amino acid at 43 A → P
    • Amino acid at 46 R → G
    • Amino acid at 46 R → Q also in PGL4
    • Amino acid at 53 G → R
    • Amino acid at 65 L → H
    • Amino acid at 65 L → P
    • Amino acid at 87 L → S
    • Amino acid at 100 S → F also complete loss of SDHB function.
    • Amino acid at 101 C → Y
    • Amino acid at 127 I → N
    • Amino acid at 192 C → R
    • Amino acid at 196 C → Y
    • Amino acid at 230 R → C (rs138996609]
    • Amino acid at 242 R → H also in PGL4
  • Paragangliomas 4 (PGL4)- OMIM:115310
    • Amino acid at 46 R → Q also in PCC
    • Amino acid at 131 P → R
    • Amino acid at 132 H → P
    • Amino acid at 197 P → R
    • Amino acid at 242 R → H also in PCC.
  • Paraganglioma and gastric stromal sarcoma (PGGSS) - OMIM:606864
  • Cowden syndrome 2 (CWS2)- OMIM:612359
    • A hamartomatous polyposis syndrome with age-related penetrance.
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