PRPH

Chr 12q13.12

peripherin

Aliases:: PRPH1
MANE:: ENST00000257860.9

OMIM: 170710 ↗NCBI: 5630 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PRPH · P41219

v62025-08-01

Predicted Aligned Error matrix for PRPH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

470 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)16%
Low(50–70)8%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

amyotrophic lateral sclerosis
0.47
prostate carcinoma
0.28
metabolic syndrome
0.25
hereditary disease
0.19
male reproductive organ cancer
0.14
frontotemporal dementia with motor neuron disease
0.12
prostate cancer
0.08
benign chondrogenic neoplasm
0.06
Guillain-Barre syndrome
0.06
type 1 diabetes mellitus
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Peripherin-2

Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity)