IMPDH1

Chr 7q32.1

inosine monophosphate dehydrogenase 1

Aliases:: sWSS2608, LCA11
MANE:: ENST00000338791.11

OMIM: 146690 ↗NCBI: 3614 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

IMPDH1 · P20839

v62025-08-01

Predicted Aligned Error matrix for IMPDH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.7/ 100

Very high

514 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)18%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Glaucoma (developmental)
Ophthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic dystrophies

Disease associations (Open Targets)

retinitis pigmentosa
0.73
retinitis pigmentosa 10
0.68
Leber congenital amaurosis
0.63
chronic hepatitis C virus infection
0.60
hepatitis C virus infection
0.60
Leber congenital amaurosis 11
0.60
cirrhosis of liver
0.59
acute lymphoblastic leukemia
0.53
viral infectious disease
0.46
Crohn disease
0.45

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

Protein function (UniProt)

Inosine-5'-monophosphate dehydrogenase 1

Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors