SUCLG1
succinate-CoA ligase GDP/ADP-forming subunit alpha
Normal Function
Health Conditions Related to Genetic Changes
SUCLG1-related mitochondrial DNA depletion syndrome
Variants (also called mutations) in the SUCLG1 gene cause SUCLG1-related mtDNA depletion syndrome, an inherited disorder that affects the early development of the brain.
Most SUCLG1 gene variants change a single protein building block (amino acid) in the alpha subunit of succinyl-CoA ligase, which reduces but does not eliminate the activity of the enzyme. People with some enzyme activity typically have milder signs and symptoms than people with no enzyme activity.
A shortage (deficiency) of normal succinyl-CoA ligase leads to problems with the production and maintenance of mtDNA. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs energy production in many of the body's cells and tissues and leads to the characteristic features of SUCLG1-related mtDNA depletion syndrome.
More About This Health ConditionRelated Conditions
SUCLG1-related mitochondrial DNA depletion syndromeLeigh syndrome
Health Conditions Related to Genetic Changes
Variants (also called mutations) in the SUCLG1 gene cause SUCLG1-related mtDNA depletion syndrome, an inherited disorder that affects the early development of the brain.
Most SUCLG1 gene variants change a single protein building block (amino acid) in the alpha subunit of succinyl-CoA ligase, which reduces but does not eliminate the activity of the enzyme. People with some enzyme activity typically have milder signs and symptoms than people with no enzyme activity.
A shortage (deficiency) of normal succinyl-CoA ligase leads to problems with the production and maintenance of mtDNA. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs energy production in many of the body's cells and tissues and leads to the characteristic features of SUCLG1-related mtDNA depletion syndrome.
MedlinePlus Genetics provides information about Leigh syndrome