LMX1A

Chr 1q23.3

LIM homeobox transcription factor 1 alpha

Aliases:: LMX1.1
MANE:: ENST00000342310.7

OMIM: 600298 ↗NCBI: 4009 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LMX1A · Q8TE12

v62025-08-01

Predicted Aligned Error matrix for LMX1A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.6/ 100

Low

382 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)17%
Low(50–70)8%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal dominant nonsyndromic hearing loss 7
0.70
autosomal dominant nonsyndromic hearing loss
0.39
Sensorineural hearing impairment
0.37
neurodegenerative disease
0.34
Abnormality of the skeletal system
0.33
facial morphology
0.32
presbycusis
0.30
hearing loss disorder
0.26
benign prostatic hyperplasia
0.25
Shock
0.24

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

Protein function (UniProt)

LIM homeobox transcription factor 1-alpha

Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity)