SUCLA2
succinate-CoA ligase ADP-forming subunit beta
Normal Function
Health Conditions Related to Genetic Changes
SUCLA2-related mitochondrial DNA depletion syndrome
Variants (also called mutations) in the SUCLA2 gene cause SUCLA2-related mtDNA depletion syndrome, an inherited disorder that affects the early development of the brain. SUCLA2 gene variants alter the structure of the beta subunit of succinyl-CoA ligase, reducing the enzyme's activity.
A shortage (deficiency) of normal succinyl-CoA ligase leads to problems with the production and maintenance of mtDNA, particularly in the developing brain and muscles. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs energy production within cells. These problems lead to weak muscle tone (hypotonia), delayed development, and the other characteristic features of SUCLA2-related mtDNA depletion syndrome.
More About This Health ConditionRelated Conditions
SUCLA2-related mitochondrial DNA depletion syndromeLeigh syndrome
Health Conditions Related to Genetic Changes
Variants (also called mutations) in the SUCLA2 gene cause SUCLA2-related mtDNA depletion syndrome, an inherited disorder that affects the early development of the brain. SUCLA2 gene variants alter the structure of the beta subunit of succinyl-CoA ligase, reducing the enzyme's activity.
A shortage (deficiency) of normal succinyl-CoA ligase leads to problems with the production and maintenance of mtDNA, particularly in the developing brain and muscles. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs energy production within cells. These problems lead to weak muscle tone (hypotonia), delayed development, and the other characteristic features of SUCLA2-related mtDNA depletion syndrome.
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