MYRF

Chr 11q12.2

myelin regulatory factor

Aliases:: Ndt80, pqn-47, MRF
MANE:: ENST00000278836.10

OMIM: 608329 ↗NCBI: 745 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYRF · Q9Y2G1

v62025-08-01

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

Mean pLDDT

60.4/ 100

Low

1,151 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)16%
Low(50–70)6%
Very low(< 50)51%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Anophthalmia or microphthalmia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Differences in sex development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Cardiac-urogenital syndrome
0.78
encephalitis/encephalopathy, mild, with reversible myelin vacuolization
0.56
hyperopia, high
0.55
hereditary disease
0.50
microphthalmia
0.49
nanophthalmia
0.47
disorder of sexual differentiation
0.45
Abnormal heart morphology
0.40
urogenital tract malformation
0.40
disease of genitourinary system
0.40

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

Protein function (UniProt)

Myelin regulatory factor

Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes (PubMed:23966832)