Primary Identifier | MGI:1914175 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 66925 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables succinate dehydrogenase (quinone) activity. Acts upstream of or within cellular response to hypoxia and regulation of catecholamine secretion. Located in mitochondrion. Part of respiratory chain complex II (succinate dehydrogenase). Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Carney-Stratakis syndrome; mitochondrial complex II deficiency; and paraganglioma. Orthologous to human SDHD (succinate dehydrogenase complex subunit D). PHENOTYPE: Homozygous null mice die before E7.5. Heterozygotes show a deficiency in succinate dehydrogenase activity and an abnormal enhancement of resting carotid body activity due to a decrease of potassium conductance and persistent calcium influx into glomus cells. [provided by MGI curators] |