LDB1

Chr 10q24.32

LIM domain binding 1

Aliases:: NLI, CLIM2
MANE:: ENST00000673968.1

OMIM: 603451 ↗NCBI: 8861 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LDB1 · Q86U70

v62025-08-01

Predicted Aligned Error matrix for LDB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.4/ 100

Confident

411 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)11%
Low(50–70)8%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.52
medulloblastoma
0.44
congenital hydrocephalus
0.44
pilocytic astrocytoma
0.37
acute myeloid leukemia
0.28
breast carcinoma
0.21
restless legs syndrome
0.10
colorectal carcinoma
0.10
autism spectrum disorder
0.09
neoplasm
0.09

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

Protein function (UniProt)

LIM domain-binding protein 1

Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state