AlphaFold predicted structure
LMX1B · O60663
Mean pLDDT
69.8/ 100
Low
402 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)21%
- Low(50–70)20%
- Very low(< 50)28%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LMX1B
Chr 9q33.3LIM homeobox transcription factor 1 beta
- MANE:
- ENST00000373474.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGlaucoma (developmental)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedProteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
nail-patella syndrome
0.85nail-patella-like renal disease
0.72open-angle glaucoma
0.57glaucoma
0.57osteoarthritis, hip
0.54hereditary disease
0.51obesity disorder
0.48osteoarthritis, knee
0.45total hip arthroplasty
0.45Abnormality of the skeletal system
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
LIM homeobox transcription factor 1-beta
Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119). Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels
Diseases associated with LMX1B
Curated MONDO disease pages that list LMX1B among their top associated genes.