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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HIGD1C
HIG1 hypoxia inducible domain family member 1C
Chromosome 12 Β· 12q13.12
NCBI Gene: 613227Ensembl: ENSG00000214511.4HGNC: HGNC:28044UniProt: A8MV81
7PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrial respirasome assemblymitochondrionmembraneAbnormality of the gastrointestinal tractovarian dysfunctionatrial fibrillationglomerulonephritis
✦AI Summary

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.

Sources cited
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: 36255054
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜8
Abnormality of the gastrointestinal tractOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.08Suggestive
glomerulonephritisOpen Targets
0.04Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
psychiatric disorderOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
HIGD1BShared pathway100%HIGD2BShared pathway100%COQ5Protein interaction79%HIGD1AShared pathway50%RAB5IFShared pathway50%HIGD2AShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Liver
83%
Brain
83%
Lung
33%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HIGD1CHIGD1BHIGD2BCOQ5HIGD1ARAB5IFHIGD2A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A8MV81
View on AlphaFold β†—
RankingsWhere HIGD1C stands among ~20K protein-coding genes
  • #17,838of 20,598
    Most Researched7
Genes detectedHIGD1C
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Tissue-specific mitochondrial HIGD1C promotes oxygen sensitivity in carotid body chemoreceptors.
PMID: 36255054
Elife Β· 2022
1.00