PRPH Chromosome 12
Peripherin
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What This Gene Does
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]
Gene Info
Gene Group
Intermediate filaments Type III
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000135406
Associated Conditions (5)
Inborn genetic diseases
Amyotrophic lateral sclerosis
susceptibility to
PRPH-related disorder
Amyotrophic lateral sclerosis type 1
Key Variants
RS374240342
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS58599399
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis, susceptibility to, PRPH-related disorder
Health Risk
RS2498984328
Likely pathogenic
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS781660354
Likely pathogenic
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS56843567
risk factor
Amyotrophic lateral sclerosis, susceptibility to, Amyotrophic lateral sclerosis
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS374240342 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS58599399 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis, susceptibility to, PRPH-related disorder |
| RS2498984328 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS781660354 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS56843567 | Health Risk | risk factor | Amyotrophic lateral sclerosis, susceptibility to, Amyotrophic lateral sclerosis |