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FLASH GENE

Symbol

PRPH

contributors: mct/npt - updated : 26-11-2021

HGNC name	peripherin
HGNC id	9461

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MDBS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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