QuickView for peripherin (gene)

Gene Symbol:

PRPH Homo sapiens

Full name:

peripherin

Synonyms:

NEF4, PRPH1, peripherin, neurofilament 4 (57kD)

Genomic Location:

Chr 12: 47975176-47978748

Description:

This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibili...

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This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYOD_Q6_01 ,  AREB6_02 ,  AP2ALPHA_01 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  CDX2_Q5 ,  CAGGTG_E12_Q6 ,  TTCYRGAA_UNKNOWN ,  CTTTAAR_UNKNOWN ,  STAT_01 ,  AP2REP_01 ,  CTGYNNCTYTAA_UNKNOWN ,  GGGTGGRR_PAX4_03

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Cytogenetic Map:

12q13.12

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