LAGE3 Chromosome X
L antigen family member 3
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What This Gene Does
This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
KEOPS complex
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000196976
Associated Conditions (3)
Galloway-Mowat syndrome 2
X-linked
LAGE3-related disorder
Key Variants
RS781904042
Conflicting classifications of pathogenicity
Health Risk
RS782019621
Conflicting classifications of pathogenicity
Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2
Health Risk
RS782572582
Conflicting classifications of pathogenicity
LAGE3-related disorder, LAGE3-related disorder
Health Risk
RS782752201
Conflicting classifications of pathogenicity
Health Risk
RS782792256
Conflicting classifications of pathogenicity
Health Risk
RS1557211209
Pathogenic
Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2
Health Risk
RS1557211306
Pathogenic
Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2
Health Risk
RS1557211410
Pathogenic
Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781904042 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782019621 | Health Risk | Conflicting classifications of pathogenicity | Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2 |
| RS782572582 | Health Risk | Conflicting classifications of pathogenicity | LAGE3-related disorder, LAGE3-related disorder |
| RS782752201 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782792256 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1557211209 | Health Risk | Pathogenic | Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2 |
| RS1557211306 | Health Risk | Pathogenic | Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2 |
| RS1557211410 | Health Risk | Pathogenic | Galloway-Mowat syndrome 2, X-linked, Galloway-Mowat syndrome 2 |