Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CHCHD6 contributors: mct/shn - updated : 11-05-2014
HGNC name coiled-coil-helix-coiled-coil-helix domain containing 6
HGNC id 28184
Location 3q21.3      Physical location : 126.423.117 - 126.679.244
Synonym name
  • coiled-coil-helix cristae morphology 1
  • coiled coil helix cristae morphology protein 1
  • protein phosphatase 1, regulatory subunit 23
  • coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial
  • Synonym symbol(s) MGC13016, CHCM1, PPP1R23
    DNA
    TYPE functioning gene
    STRUCTURE 256.20 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D3S3636 - D3S1589 - CHCHD6 - D3S3584 - D3S3606 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1020 - 235 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a coiled coil helix-coiled coil helix domain at its C-terminal
    HOMOLOGY
    interspecies ortholog to Chchd6, Mus musculus
    ortholog to Chchd6, Rattus norvegicus
    ortholog to CHCHD6, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    text predominantly localizes to mitochondrial inner membrane
    basic FUNCTION
  • regulation of mitochondrial cristae morphology, cell growth, ATP production, and oxygen consumption
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • IMMT and CHCHD6, which physically interact, are two components of the MICOS
  • CHCHD6, APOOL and APOO appear to be periphery subunits of the MICOS complex, because their depletion does not affect cristae morphology or stability of other components
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • mitofilin, DISC1 and CHCHD3
  • IMMT and CHCHD6 directly interacted with SAMM50
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CHCM1/CHCHD6 knockdown causes severe defects in mitochondrial cristae morphology, and leads to reductions in cell growth, ATP production, and oxygen consumption