| Primary Identifier | MGI:1913302 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 66052 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Contributes to succinate dehydrogenase (quinone) activity. Involved in tricarboxylic acid cycle. Located in mitochondrion. Part of respiratory chain complex II (succinate dehydrogenase). Is active in mitochondrial matrix. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and sensory organ. Used to study Leigh disease. Human ortholog(s) of this gene implicated in Carney-Stratakis syndrome; gastrointestinal stromal tumor; lung non-small cell carcinoma; paraganglioma; and pheochromocytoma/paraganglioma syndrome 3. Orthologous to human SDHC (succinate dehydrogenase complex subunit C). PHENOTYPE: Heterozygous compound knockouts (with Sdhb or Sdhb and Sdhd) show reduced increase in blood hemoglobin under hypoxic conditions. [provided by MGI curators] |