1. Gene
  2. PANX1 - pannexin 1 Gene

PANX1 - pannexin 1 Gene

Homo sapiens

Also known as PX1; MRS1; OOMD7; UNQ2529

Gene ID: 24145 | Gene type: protein coding

About PANX1

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:94,128,841-94,181,968 (from NCBI)

This gene has 2 transcripts (splice variants), 274 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 7.4), appendix (RPKM 5.7) and 25 other tissues.

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]

PANX1 Products(1)

mRNA Protein Name
NM_015368.4 NP_056183.2 pannexin-1

PANX1 Protein Structure

Innexin

Innexin: Innexin (33 - 236)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 426 a.a.
Protein Preferred Names Protein Names

pannexin-1

innexin

Related Diseases

Diseases Alias
Oocyte Maturation Defect 7

OOMD7

Oocyte Maturation Defect, Type 7

Female Infertility Due To Oocyte Meiotic Arrest
Intellectual Developmental Disorder, Autosomal Dominant 1

MRD1

Autosomal Dominant Non-Syndromic Intellectual Disability 1

Mental Retardation, Autosomal Dominant 1

Autosomal Dominant Intellectual Developmental Disorder 1

Vertebral Artery Occlusion

Occlusion And Stenosis Of Vertebral Artery

Anterior Spinal Artery Syndrome

Anterior Spinal Artery Occlusion Syndrome

Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Infertility
Basilar Artery Occlusion
Oculodentodigital Dysplasia

Odd Syndrome

ODDD

Oculodentoosseous Dysplasia

Oculodentodigital Syndrome

Odod

Oculo-Dento-Digital Dysplasia

Oculo-Dento-Digital Syndrome

Oculo-Dento-Osseous Dysplasia

Osseous-Oculo-Dental Dysplasia

Meyer-Schwickerath Syndrome

Oddd Syndrome

Oculo Dento Digital Dysplasia

Odds

Oculodentodigital Dysplasia Syndrome

Jejunoileitis
Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Occlusion Precerebral Artery

Occlusion And Stenosis Of Multiple And Bilateral Precerebral Arteries

Occlusion And Stenosis Of Precerebral Artery

Cerebral Arterial Disease

Cerebral Arterial Diseases

Intracranial Berry Aneurysm

Familial Aneurysmal Subarachnoid Hemorrhage

Familial Berry Aneurysm

Familial Intracranial Saccular Aneurysm

Saccular Cerebral Aneurysm

Aneurysm, Intracranial Berry

Aneurysmal Subarachnoid Hemorrhage

Aneurysm, Intracranial Berry, 1

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PANX1 VGNC VGNC:32567
Felis catus PANX1 VGNC VGNC:68691
Canis familiaris PANX1 VGNC VGNC:44254
Macaca mulatta PANX1 VGNC VGNC:75754
Mus musculus PANX1 MGD MGI:1860055
Rattus norvegicus PANX1 RGD RGD:735204