TOM1 Chromosome 22
Target of myb1 membrane trafficking protein
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What This Gene Does
This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100284
Associated Conditions (1)
Immunodeficiency 85 and autoimmunity
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS34371697 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369952232 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778537779 | Health Risk | Pathogenic | Immunodeficiency 85 and autoimmunity, Immunodeficiency 85 and autoimmunity |