1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
7PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingmitochondrial respirasome assemblymitochondrionmembraneAbnormality of the gastrointestinal tractovarian dysfunctionatrial fibrillationglomerulonephritis
Based on limited published evidence, HIGD1C is a mitochondrial protein containing a hypoxia-inducible domain that functions in mitochondrial respirasome assembly through protein binding interactions. It is almost exclusively expressed in carotid body chemoreceptors, where it interacts with electron transport chain complex IV and enhances sensitivity to hypoxic stress 1. HIGD1C is required for oxygen sensing by carotid body glomus cells, enabling their specialized role as hypoxia sentinels that trigger cardiorespiratory reflexes in response to reduced oxygen availability 1.
1
HIGD1C is a complex IV-interacting protein required for carotid body oxygen sensing that enhances complex IV sensitivity to hypoxia, enabling specialized mitochondrial hypoxia detection
PMID: 36255054β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
Abnormality of the gastrointestinal tractOpen Targets
ovarian dysfunctionOpen Targets
atrial fibrillationOpen Targets
glomerulonephritisOpen Targets
chronic kidney diseaseOpen Targets
Alzheimer diseaseOpen Targets
psychiatric disorderOpen Targets
No pathogenic variants reported on ClinVar for this gene.