LMOD1 Chromosome 1
Leiomodin 1
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What This Gene Does
The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Leiomodins
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000163431
Associated Conditions (5)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Visceral myopathy 1
Thyroid cancer
nonmedullary
1
Key Variants
RS1196609413
Pathogenic
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Health Risk
RS1487322841
Pathogenic
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Health Risk
RS777696417
Pathogenic
Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Thyroid cancer
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1196609413 | Health Risk | Pathogenic | Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 |
| RS1487322841 | Health Risk | Pathogenic | Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 |
| RS777696417 | Health Risk | Pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Thyroid cancer |