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FLASH GENE
Symbol PRPH contributors: mct/npt - updated : 26-11-2021
HGNC name peripherin
HGNC id 9461
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • tetraspanin family
  • intermediate filament family, type III
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • a type III intermediate filament protein found in the peripheral nervous system neurons
  • component of ubiquitinated inclusions and of axonal spheroids in amyotrophic lateral sclerosis (ALS)
  • neuronal intermediate filament protein detected within the intraneuronal inclusions characteristic of amyotrophic lateral sclerosis (McLean 2008)
  • peripherin plays a role not only in neurite outgrowth during development but also in axonal regeneration after injury
  • intermediate filament (IF) protein involved in cytoskeletal development and maintenance of neurons
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    its phosophrylation may play a role in motor nerve regeneration
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SYNC might function to modulate formation of PRPH filament networks through binding to peripherin isoforms
  • B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, PRPH
  • is an intermediate filament protein expressed primarily in peripheral neurons, as a putative RAB7A interacting protein, and RAB7A is important for peripherin organization and function
    • cell & other
    REGULATION
    induced by phosphorylation by Akt
    ASSOCIATED DISORDERS
    corresponding disease(s) MDBS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of Peripherin 28 (transcript retaining introns 3 and 4 that results in a 28 kDa splice isoform) expression in ALS compared with controls, at both the mRNA and protein levels, and that Per 28 is associated with disease pathology, specifically round inclusions (Simonelli 2007)
    Susceptibility
  • to amyotrophic lateral sclerosis
  • to peripheral neuropathy
    • Variant & Polymorphism other
  • frameshift peripherin mutant (1-bp deletion within exon 1 (PRPH(228delC)), predicting a truncated peripherin species of 85 amino acids) resulted in disruption of neurofilament network assembly and in amyotrophic lateral sclerosis
  • PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
    • Candidate gene
    Marker
  • can be used as a marker for the characterization of the innervation of the outer (OHCs) hair cells system
  • marker of Hirschsprung disease (HD) (may be most helpful in identifying transition zones)
    • Therapy target
    ANIMAL & CELL MODELS