protein 1,274 words KG: CHCHD10PROTEIN
Contents

CHCHD10PROTEIN Protein

🔬 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)
Molecular Weight14 kDa
Amino Acids182 aa
UniProt IDQ8WYQ3
Ensembl IDENSG00000250479
GeneCardsCHCHD10
Human Protein AtlasCHCHD10
MutationLocation
p.S59LN-terminal
Associated DiseasesALS, AMYOTROPHIC LATERAL SCLEROSIS, AUTOPHAGY, MITOCHONDRIAL DYSFUNCTION, PARKINSON'S DISEASE
InteractionsFUS, GBA, LRRK2, PARK7, PINK1, SNCA
KG Connections127 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph