功能： disease:Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:253250]; also called muscle-liver-brain-eye nanism. Mulibrey nanism 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.,similarity:Belongs to the TRIM/RBCC family.,similarity:Contains 1 B box-type zinc finger.,similarity:Contains 1 MATH domain.,similarity:Contains 1 RING-type zinc finger.,subcellular location:Found in vesicles of the peroxisome.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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. .
组织表达： Ubiquitous (PubMed:10888877). Highly expressed in testis, while it is weakly expressed in other tissues (PubMed:16310976).
功能： disease:Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:253250]; also called muscle-liver-brain-eye nanism. Mulibrey nanism 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.,similarity:Belongs to the TRIM/RBCC family.,similarity:Contains 1 B box-type zinc finger.,similarity:Contains 1 MATH domain.,similarity:Contains 1 RING-type zinc finger.,subcellular location:Found in vesicles of the peroxisome.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： 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. .
组织表达： Ubiquitous (PubMed:10888877). Highly expressed in testis, while it is weakly expressed in other tissues (PubMed:16310976).
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