AIMP2 Chromosome 7
Aminoacyl tRNA synthetase complex interacting multifunctional protein 2
Upload your DNA to see your personal genotypes for variants in AIMP2.
What This Gene Does
The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]
Gene Info
Gene Group
"Small nucleolar RNA protein coding host genes|Aminoacyl tRNA synthetase complex interacting multifunctional proteins"
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000106305
Associated Conditions (5)
Inborn genetic diseases
Leukodystrophy
hypomyelinating
17
Neurodevelopmental abnormality
Key Variants
RS140850823
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147658637
Likely pathogenic
Leukodystrophy, hypomyelinating, 17
Health Risk
RS529613640
Likely pathogenic
Neurodevelopmental abnormality, Leukodystrophy, hypomyelinating
Health Risk
RS760123492
Likely pathogenic
Leukodystrophy, hypomyelinating, 17
Health Risk
RS1786358808
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS869312968
Pathogenic
Inborn genetic diseases, Leukodystrophy, hypomyelinating
Health Risk
RS1786357576
Pathogenic/Likely pathogenic
Inborn genetic diseases, Leukodystrophy, hypomyelinating
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140850823 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147658637 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 17 |
| RS529613640 | Health Risk | Likely pathogenic | Neurodevelopmental abnormality, Leukodystrophy, hypomyelinating |
| RS760123492 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 17 |
| RS1786358808 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS869312968 | Health Risk | Pathogenic | Inborn genetic diseases, Leukodystrophy, hypomyelinating |
| RS1786357576 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Leukodystrophy, hypomyelinating |