TRIM37 Chromosome 17
Tripartite motif containing 37
Upload your DNA to see your personal genotypes for variants in TRIM37.
What This Gene Does
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. Mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. TRIM37 localizes in peroxisomal membranes, and has been implicated in human peroxisomal biogenesis disorders. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family"
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000108395
Associated Conditions (4)
Mulibrey nanism syndrome
TRIM37-related disorder
See cases
Inborn genetic diseases
Key Variants
RS112762655
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS121908391
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS1326036403
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS142101613
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS143621221
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS147639509
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, TRIM37-related disorder, Mulibrey nanism syndrome
Health Risk
RS187769000
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS199714666
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS200411817
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS2035829725
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
RS386834004
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, TRIM37-related disorder, Mulibrey nanism syndrome
Health Risk
RS532325984
Conflicting classifications of pathogenicity
Mulibrey nanism syndrome, Mulibrey nanism syndrome
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS386834005 | Health Risk | Pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834007 | Health Risk | Pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS759348667 | Health Risk | Pathogenic | — |
| RS761979292 | Health Risk | Pathogenic | Inborn genetic diseases, Mulibrey nanism syndrome, Inborn genetic diseases |
| RS774250815 | Health Risk | Pathogenic | — |
| RS904920254 | Health Risk | Pathogenic | — |
| RS1170262447 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS1285351867 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS1285784670 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS1294799200 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS1326330706 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS138861038 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS1484570929 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS2544996471 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS2544996719 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS2546075421 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS312262706 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834000 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834006 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS757148418 | Health Risk | Pathogenic/Likely pathogenic | Mulibrey nanism syndrome, Mulibrey nanism syndrome |