ALX3 Chromosome 1
ALX homeobox 3
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What This Gene Does
This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000156150
Associated Conditions (2)
Inborn genetic diseases
Frontorhiny
Key Variants
RS375503292
Conflicting classifications of pathogenicity
Inborn genetic diseases, Frontorhiny, Inborn genetic diseases
Health Risk
RS1553196068
Likely pathogenic
Frontorhiny, Frontorhiny
Health Risk
RS121908166
Pathogenic
Frontorhiny, Frontorhiny
Health Risk
RS121908167
Pathogenic
Frontorhiny, Frontorhiny
Health Risk
RS121908169
Pathogenic
Frontorhiny, Frontorhiny
Health Risk
RS121908170
Pathogenic
Frontorhiny, Frontorhiny
Health Risk
RS1570936479
Pathogenic
Frontorhiny, Frontorhiny
Health Risk
RS2524435705
Pathogenic
Health Risk
RS2524436550
Pathogenic
Frontorhiny, Frontorhiny
Health Risk
RS387906319
Pathogenic
Frontorhiny, Frontorhiny
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375503292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Frontorhiny, Inborn genetic diseases |
| RS1553196068 | Health Risk | Likely pathogenic | Frontorhiny, Frontorhiny |
| RS121908166 | Health Risk | Pathogenic | Frontorhiny, Frontorhiny |
| RS121908167 | Health Risk | Pathogenic | Frontorhiny, Frontorhiny |
| RS121908169 | Health Risk | Pathogenic | Frontorhiny, Frontorhiny |
| RS121908170 | Health Risk | Pathogenic | Frontorhiny, Frontorhiny |
| RS1570936479 | Health Risk | Pathogenic | Frontorhiny, Frontorhiny |
| RS2524435705 | Health Risk | Pathogenic | — |
| RS2524436550 | Health Risk | Pathogenic | Frontorhiny, Frontorhiny |
| RS387906319 | Health Risk | Pathogenic | Frontorhiny, Frontorhiny |