LMOD1

Chr 1q32.1

leiomodin 1

Aliases:: 64kD, D1, 1D, SM-LMOD, SMLMOD
MANE:: ENST00000367288.5

OMIM: 602715 ↗NCBI: 25802 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Paediatric pseudo-obstruction syndrome
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

megacystis-microcolon-intestinal hypoperistalsis syndrome 3
0.62
Abnormality of the skeletal system
0.51
atrial fibrillation
0.46
megacystis-microcolon-intestinal hypoperistalsis syndrome 1
0.38
megacystis-microcolon-intestinal hypoperistalsis syndrome
0.38
familial visceral myopathy
0.35
visceral myopathy 1
0.35
Transient global amnesia
0.34
urinary tract infection
0.34
coronary artery disorder
0.28

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

Protein function (UniProt)

Leiomodin-1

Required for proper contractility of visceral smooth muscle cells (PubMed:28292896). Mediates nucleation of actin filaments