POU4F1 Chromosome 13
POU class 4 homeobox 1
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What This Gene Does
This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
POU class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
13q31.1
Ensembl
ENSG00000152192
Associated Conditions (5)
POU4F1-related disorder
Ataxia
intention tremor
and hypotonia syndrome
childhood-onset
Key Variants
RS754365572
Conflicting classifications of pathogenicity
POU4F1-related disorder, POU4F1-related disorder
Health Risk
RS2137406246
Likely pathogenic
Health Risk
RS2500899195
Likely pathogenic
Ataxia, intention tremor, and hypotonia syndrome
Health Risk
RS1874704791
Pathogenic
Ataxia, intention tremor, and hypotonia syndrome
Health Risk
RS1874754405
Pathogenic
Ataxia, intention tremor, and hypotonia syndrome
Health Risk
RS2137404831
Pathogenic
Ataxia, intention tremor, and hypotonia syndrome
Health Risk
RS2137404878
Pathogenic
Ataxia, intention tremor, and hypotonia syndrome
Health Risk
RS2500902141
Pathogenic
Ataxia, intention tremor, and hypotonia syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754365572 | Health Risk | Conflicting classifications of pathogenicity | POU4F1-related disorder, POU4F1-related disorder |
| RS2137406246 | Health Risk | Likely pathogenic | — |
| RS2500899195 | Health Risk | Likely pathogenic | Ataxia, intention tremor, and hypotonia syndrome |
| RS1874704791 | Health Risk | Pathogenic | Ataxia, intention tremor, and hypotonia syndrome |
| RS1874754405 | Health Risk | Pathogenic | Ataxia, intention tremor, and hypotonia syndrome |
| RS2137404831 | Health Risk | Pathogenic | Ataxia, intention tremor, and hypotonia syndrome |
| RS2137404878 | Health Risk | Pathogenic | Ataxia, intention tremor, and hypotonia syndrome |
| RS2500902141 | Health Risk | Pathogenic | Ataxia, intention tremor, and hypotonia syndrome |