Tripartite Motif-Containing 37 (TRIM37) Antibody – Rabbit 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. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

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

Chromosomal Location of Human Ortholog: 17q23.2

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

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

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

Disease: Mulibrey Nanism