MIA3 Chromosome 1
MIA SH3 domain ER export factor 3
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What This Gene Does
Enables cargo receptor activity. Involved in several processes, including COPII-coated vesicle cargo loading; cell migration involved in sprouting angiogenesis; and regulation of leukocyte migration. Located in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"CTAGE family|MIA family"
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000154305
Associated Conditions (2)
Inborn genetic diseases
ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748773142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771534699 | Health Risk | Pathogenic | ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES, ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES |