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Rabbit Anti-TRIM37/FITC Conjugated antibody
background:
TRIM37 is a protein that localizes to peroxisomes and contains a tripartite motif (TRIM) and a tumor necrosis factor-receptor associated factor (TRAF) domain. The protein and gene forms of TRIM37 are highly conserved between human and mouse. TRIM37 is expressed at a low level in the liver, ovary, heart, lung, skeletal muscle, and kidney, while it is highly expressed in the testis and brain, where it may act as an E3 ubiquitin ligase. Mutations in the TRIM37 gene result in Mulibrey nanism, an autosomal recessive prenatal-onset growth disorder that causes characteristic dysmorphic craniofacial features, heart disease, cardiopathy, failure of sexual maturation, and hepatomegaly.
Function:
E3 ubiquitin-protein ligase.
Subcellular Location:
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.
Tissue Specificity:
Ubiquitous.
Post-translational modifications:
Auto-ubiquitinated.
DISEASE:
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.
Similarity:
Belongs to the TRIM/RBCC family.
Contains 1 B box-type zinc finger.
Contains 1 MATH domain.
Contains 1 RING-type zinc finger.
Database links:
Entrez Gene: 4591 Human
Omim: 605073 Human
SwissProt: O94972 Human
Unigene: 579079 Human
Unigene: 605697 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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