PANX1 Chromosome 11
Pannexin 1
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What This Gene Does
The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Pannexins
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000110218
Associated Conditions (2)
PANX1-related disorder
Oocyte maturation defect 7
Key Variants
RS148324299
Conflicting classifications of pathogenicity
PANX1-related disorder, Oocyte maturation defect 7, PANX1-related disorder
Health Risk
RS149967628
Conflicting classifications of pathogenicity
Health Risk
RS1212949833
Pathogenic
Oocyte maturation defect 7, Oocyte maturation defect 7
Health Risk
RS1591499598
Pathogenic
Oocyte maturation defect 7, Oocyte maturation defect 7
Health Risk
RS1591529130
Pathogenic
Oocyte maturation defect 7, Oocyte maturation defect 7
Health Risk
RS1591529258
Pathogenic
Oocyte maturation defect 7, Oocyte maturation defect 7
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148324299 | Health Risk | Conflicting classifications of pathogenicity | PANX1-related disorder, Oocyte maturation defect 7, PANX1-related disorder |
| RS149967628 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1212949833 | Health Risk | Pathogenic | Oocyte maturation defect 7, Oocyte maturation defect 7 |
| RS1591499598 | Health Risk | Pathogenic | Oocyte maturation defect 7, Oocyte maturation defect 7 |
| RS1591529130 | Health Risk | Pathogenic | Oocyte maturation defect 7, Oocyte maturation defect 7 |
| RS1591529258 | Health Risk | Pathogenic | Oocyte maturation defect 7, Oocyte maturation defect 7 |