mechanism 1,048 words KG: ent-gene-c018422f 2026-03-28
mechanismmechanismspublishedalsftdmitochondrial-dysfunctioncausal-chainsgenetics
Contents

CHCHD10 Mitochondrial Dysfunction — ALS/FTD Causal Chain

🔬 Protein Info
Gene SymbolCHCHD10
Full NameCoiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10
AliasesCHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
Chromosome22q11.23
Protein FamilyCHCH domain-containing protein family
FunctionTogether they stabilize the mitochondrial contact site and cristae organizing system (MICOS), which maintains cristae morphology essential for efficient OXPHOS (Genin et al., 2016).
Primary ExpressionMotor cortex, Spinal cord, Mitochondria (widespread)
Subcellular LocalizationMitochondrial intermembrane space, cristae junctions
Molecular Weight14 kDa
Amino Acids182 aa
UniProt IDQ8WYQ3
NCBI Gene ID400916
Ensembl IDENSG00000250479
OMIM615903
GeneCardsCHCHD10
Human Protein AtlasCHCHD10
Associated DiseasesALS, AMYOTROPHIC LATERAL SCLEROSIS, AUTOPHAGY, MITOCHONDRIAL DYSFUNCTION, PARKINSON'S DISEASE
InteractionsFUS, GBA, LRRK2, PARK7, PINK1, SNCA
KG Connections127 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

Related Hypotheses (29)

VCP-Mediated Autophagy Enhancement
Score: 0.41
Digital Twin-Guided Metabolic Reprogramming
Score: 0.61
Targeted Butyrate Supplementation for Microglial Phenotype M
Score: 0.56
Perforant Path Presynaptic Terminal Protection Strategy
Score: 0.48
Metabolic Reprogramming via Coordinated Multi-Gene CRISPR Ci
Score: 0.45

Related Analyses (30)

TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · archived
Microglial subtypes in neurodegeneration — friend vs foe
neuroscience · failed
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · completed

Related Experiments (29)

Autophagy Enhancement Drug Screening for Neurodegeneration
clinical · proposed · Score: 0.40
Mechanism: C9orf72 Hexanucleotide Repeat Expansion in ALS/FT
validation · proposed · Score: 0.40
C9orf72 Phenotype Divergence: ALS vs FTD Mechanism Study
clinical · proposed · Score: 0.40
Epigenetic Dysregulation in Huntington's Disease — Therapeut
validation · proposed · Score: 0.40
Frontal and Temporal Lobe Selective Vulnerability in FTD — M
validation · proposed · Score: 0.40

Knowledge Graph (2 edges)

ent-gene-c018422f data_in benchmark_ot_ad_answer_key:CHCHD10
benchmark_ot_ad_answer_key:CHCHD10 data_in ent-gene-c018422f