LBX1

Chr 10q24.32

ladybird homeobox 1

Aliases:: LBX1H, HPX6
MANE:: ENST00000370193.4

OMIM: 604255 ↗NCBI: 10660 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LBX1 · P52954

v62025-08-01

Predicted Aligned Error matrix for LBX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.9/ 100

Low

281 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)16%
Low(50–70)35%
Very low(< 50)26%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Central congenital hypoventilation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

central hypoventilation syndrome, congenital
0.37
Ondine syndrome
0.37
central hypoventilation syndrome, congenital, 3
0.31
scoliosis
0.30
adolescent idiopathic scoliosis
0.29
Abnormality of the skeletal system
0.27
uterine corpus leiomyoma
0.24
Menorrhagia
0.21
androgen insensitivity syndrome
0.08
schwannomatosis
0.07

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

Protein function (UniProt)

Transcription factor LBX1

Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord