PRPH gene

peripherin

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

Class-III neuronal intermediate filament protein.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Amyotrophic lateral sclerosis type 1

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12

Molecular Location: base pairs 49,295,013 to 49,298,698 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12
  • NEF4
  • PRPH1