Primary Identifier | MGI:1306775 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 20916 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable succinate-CoA ligase (ADP-forming) activity. Predicted to be involved in succinate metabolic process; succinyl-CoA metabolic process; and tricarboxylic acid cycle. Located in mitochondrion and myelin sheath. Part of succinate-CoA ligase complex (ADP-forming). Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study mitochondrial DNA depletion syndrome 5. Human ortholog(s) of this gene implicated in mitochondrial DNA depletion syndrome 5. Orthologous to human SUCLA2 (succinate-CoA ligase ADP-forming subunit beta). PHENOTYPE: Mice homozygous for a gene trap allele exhibit perinatal lethality with reduced size, placenta mineralization, decreased mitochondrial DNA and respiration. [provided by MGI curators] |