Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:253250]; also known as muscle-liver-brain-eye nanism. MUL is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common.
Belongs to the TRIM/RBCC family. Contains 1 B box-type zinc finger. Contains 1 MATH domain. Contains 1 RING-type zinc finger.
Cytoplasm > perinuclear region. Peroxisome. Found in vesicles of the peroxisome. Aggregates as aggresomes, a perinuclear region where certain misfolded or aggregated proteins are sequestered for proteasomal degradation.