Entrez Gene ID | 24145 |
---|---|
Official Gene Symbol | PANX1 (GeneCards) |
Full name | pannexin 1 |
Location | 11q21 |
Other ids | Vega : OTTHUMG00000167757 MIM : 608420 HGNC : HGNC:8599 Ensembl : ENSG00000110218 |
Other names | PX1, MRS1, UNQ2529 |
Summary | 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] |
Found 6 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1490 | 24145 | PANX1 | 11 | 93913089 | 93913089 | Autism Spectrum Disorders | NextSeq500 v2 |
15084 | 24145 | PANX1 | 11 | 93922147 | 93922147 | Asymptomatic | NextSeq500 v2 HiSeq 2000 |
15706 | 24145 | PANX1 | 11 | 93932829 | 93932829 | Asymptomatic | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
15885 | 24145 | PANX1 | 11 | 93862428 | 93862428 | Cockayne syndrome | NextSeq500 v2 HiSeq 2000 HiSeq X Ten |
29330 | 24145 | PANX1 | 11 | 93913089 | 93913089 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq 2000 HiSeq X Ten MiSeq |
29848 | 24145 | PANX1 | 11 | 93913089 | 93913089 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq 2000 HiSeq X Ten MiSeq NextSeq500 |