SDHB stands for succinate dehydrogenase complex subunit B. It is involved in the oxidation of succinate (succinate + ubiquinone = fumarate + ubiquinol) and carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit B protein or iron-sulfur protein, which binds three different iron-sulfur clusters, is directly involved in the catalytic activity of succinate dehydrogenase.

The location in humans is on the first chromosome at p36.1-p35. The gene is coded in 1123 base pairs, partitioned in 8 exons. The expressed protein has 280 amino acids.

Mutations in the gene can cause familial pheochromocytoma (also called familial paraganglioma type PGL4). Malignancy is common, ranging from 30%-80% in carriers with disease. Mutations causing disease have been seen in exons 1 through 7, but not 8.

External links

References

• Hartmut P.H. Newmann et al., Distinct Clinical Features of Paraganglioma Syndromes Associated With SDHB and SDHD Gene Mutations, 2004-Vol. 292, No. 8, page 943.

Genes