HIG1 domain family member 2A, mitochondrial (HIGD2A)

HIG1 domain family member 2A, mitochondrial (HIGD2A), is a mitochondrial inner membrane protein classified as an assembly factor for cytochrome c oxidase (complex IV) of the mitochondrial respiratory chain. HIGD2A is required for the biogenesis and stabilization of the COX3 module, a critical subassembly necessary for proper formation of functional complex IV and subsequent assembly into respiratory chain supercomplexes[1]. Loss of HIGD2A impairs mitochondrial respiration, disrupts the assembly and activity of complex IV, and can lead to severe clinical phenotypes such as complex IV deficiency with symptoms including developmental delay, lactic acidosis, and cardiomyopathy[1]. HIGD2A is strongly upregulated under certain pathological conditions and is homologous to yeast Rcf1, which has a similar role in supercomplex assembly. HIGD2A is not a common therapeutic target, but its essential role in mitochondrial function and disease highlights its biological significance[1][3].

Other names

HIG1 domain family member 2A, mitochondrialHIGD2ARCF1bMGC2198RCF1BRCF1 homolog BHIG2A