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FLASH GENE
Symbol TCHH contributors: mct - updated : 18-01-2017
HGNC name trichohyalin
HGNC id 11791
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two EF hands Ca2+binding domains at the N terminus
  • a single stranded alpha helical rod including a keratin intermediate filament (KIF) binding site
    • mono polymer monomer
    HOMOLOGY
    intraspecies homolog to S100
    Homologene
    FAMILY
  • S100-fused protein family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • calcium binding protein of differentiated hard keratinizing tissues
  • intermediate filament-associated protein (IFAP)
  • plays a key role in the assembly of keratin intermediate filaments (IFs) during the hair cycle
  • is a potential major autoantigen in human alopecia areata
  • large structural protein abundant in the inner root sheath (IRS) of anagenic hair follicles, which has been thought to mediate the keratin filamentous assembly
  • latches onto the keratin bundles by its C-terminus and rearranges the keratin meshwork by intrinsic cohesive activity for the granule formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text epidermal
    PATHWAY
    metabolism
    signaling
    a component
  • component of the epidermal differentiation complex (EDC@)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BMP4 facilitates TCHH transcription, and intriguingly, a nuclear lamina component plays a key role in the posttranslational stabilization of TCHH protein
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) UHS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS