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FLASH GENE
Symbol GHITM contributors: mct - updated : 01-06-2016
HGNC name growth hormone inducible transmembrane protein
HGNC id 17281
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a common structure of at least seven transmembrane domains with the last domain being semi-hydrophobic
  • HOMOLOGY
    Homologene
    FAMILY Bax inhibitor-1 super family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text
  • inner membrane protein
  • localized in the mitochondria
  • basic FUNCTION
  • may represent regulator of cell death pathways, which is concluded from structure conservation of BI1 family
  • involved in mitochondrial morphology in specific cristae structures and the apoptotic release of cytochrome c from the mitochondria
  • plays a role in maintaining mitochondrial morphology separately from the function in apoptotic pathways
  • facilitates the tight association of cytochrome c with the inner membrane
  • individually functions in mitochondrial morphology and cytochrome c release
  • play a role in apoptosis
  • reduce the CaČ&
  • 8314; content of the endoplasmic reticulum, and all but TMBIM5 also reduce the cytosolic resting CaČ&
    8314; concentration
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    causes mitochondrial fragmentation and cristae disorganization and stimulates the release of proapoptotic proteins
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS