LMOD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human LMOD1 wild-type allele is located in the vicinity of 1q32.1 and is approximately 50 kb in length. This allele, which encodes leiomodin-1 protein, is involved in the promotion of actin polymerization. Mutations in the gene are associated with megacystis-microcolon-intestinal hypoperistalsis syndrome 3. Aberrant overexpression of the gene is associated with expression of leiomodin 1 may be linked to thyroid-associated ophthalmopathy.

**Synonyms:** - 1D - 64kD - D1 - Hashimoto Thyroiditis Autoantigen, 64-kD Gene - Leiomodin 1 (Smooth Muscle) Gene - Leiomodin 1 wt Allele - Leiomodin, Smooth Muscle Gene - MMIHS3 - SM-LMOD - SMLMOD - Thyroid and Eye Muscle Autoantigen D1 (64kD) Gene - Thyroid and Eye Muscle Autoantigen, 64-kD Gene - Thyroid-Associated Ophthalmopathy Autoantigen, 64-kD Gene