TRIM37 Antibody – Goat Polyclonal

This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. [provided by RefSeq, Mar 2016]

TRIM37: E3 ubiquitin-protein ligase. Defects in TRIM37 are the cause of mulibrey nanism (MUL); 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Ligase; Oncoprotein; Ubiquitin conjugating system; EC 6.3.2.-; Ubiquitin ligase

Chromosomal Location of Human Ortholog: 17q23.2

Cellular Component: cytoplasm; cytosol; ESC/E(Z) complex; perinuclear region of cytoplasm; peroxisome

Molecular Function: chromatin binding; ligase activity; protein binding; protein homodimerization activity; tumor necrosis factor receptor binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; zinc ion binding

Biological Process: activation of NF-kappaB transcription factor; inhibition of NF-kappaB transcription factor; negative regulation of centriole replication; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription factor activity; protein autoubiquitination; transcription, DNA-dependent

Disease: Mulibrey Nanism