SDHB

The official name of this gene is “succinate dehydrogenase complex, subunit B, iron sulfur (Ip).”

SDHB is the gene's official symbol. The SDHB gene is also known by other names, listed below.

UniProt provides the following information about the SDHB gene's involvement in human disease.

Defects in SDHB are a cause of pheochromocytoma^[1]. The pheochromocytomas are catecholamine-producing, chromaffin tumors that arise in the adrenal medulla in 90% of cases. In the remaining 10% of cases, they develop in extra-adrenal sympathetic ganglia and may be referred to as "paraganglioma." Pheochromocytoma usually presents with hypertension. Approximately 10% of pheochromocytoma is hereditary. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of non-syndromic familial pheochromocytoma is unknown.

Defects in SDHB are the cause of hereditary paragangliomas type 4 (PLG4)^[2]; also known as familial non-chromaffin paragangliomas type 4. Paragangliomas refer to rare and mostly benign tumors that arise from any component of the neuroendocrine system. PLG4 is characterized by the development of mostly benign, highly vascular, slow growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors.

Defects in SDHB are a cause of paraganglioma and gastric stromal sarcoma^[3]; also called Carney-Stratakis syndrome. Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.

Defects in SDHB are a cause of Cowden-like syndrome^[4]. Cowden-like syndrome is a cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid, kidney and uterus.

Entrez Gene lists the following diseases or traits (phenotypes) known to be associated with changes in the SDHB gene.

• Cowden-like syndrome^[4]
• Paraganglioma and gastric stromal sarcoma^[3]
• Paraganglioma, familial chromaffin, 4^[2]
• Pheochromocytoma^[1]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	171300	PHEOCHROMOCYTOMA
[2]	115310	PARAGANGLIOMAS 4; PGL4
[3]	606864	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
[4]	612359	COWDEN-LIKE SYNDROME

Cytogenetic Location: 1p36.1-p35

Molecular Location on chromosome 1: base pairs 17,345,216 to 17,380,664

The SDHB gene is located on the short (p) arm of chromosome 1 between positions 36.1 and 35.

More precisely, the SDHB gene is located from base pair 17,345,216 to base pair 17,380,664 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

You and your healthcare professional may find the following resources about SDHB helpful.

• Gene Tests - DNA tests ordered by healthcare professionals

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

autosomal ; autosomal dominant ; benign ; cancer ; chromaffin paraganglioma ; chromaffin tumour ; coenzyme Q ; dehydrogenase ; electron ; enzyme ; familial ; gastric ; gastrointestinal ; gene ; germline ; germline mutation ; hypertension ; iron ; kidney ; mutation ; oncogene ; oxidation ; penetrance ; pheochromocytoma ; predisposition ; protein ; proto-oncogene ; respiratory ; sarcoma ; sporadic ; subunit ; susceptibility ; syndrome ; thyroid ; tumor ; ubiquinone ; vascular

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.