GJB1 Chromosome X
Gap junction protein beta 1
Upload your DNA to see your personal genotypes for variants in GJB1.
What This Gene Does
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000169562
Associated Conditions (18)
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease
Inborn genetic diseases
GJB1-related disorder
Peripheral neuropathy
Cerebellar ataxia
Pes cavus
Hammertoe
Decreased nerve conduction velocity
Sensory neuropathy
Distal muscle weakness
Peroneal muscle atrophy
Distal lower limb muscle weakness
Hand muscle atrophy
8 conditions
Dejerine-Sottas disease
Hereditary neuropathy or pain disorder
Key Variants
RS1003232768
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS104894820
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS104894825
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
Health Risk
RS1057524799
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
Health Risk
RS1060501001
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS1064793139
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS116840823
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS1213746899
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
Health Risk
RS1299325261
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, GJB1-related disorder
Health Risk
RS1383588318
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
Health Risk
RS144381053
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
Health Risk
RS1555936989
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
Health Risk
All Variants (267)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1602348726 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1602348786 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602348794 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602348895 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1602348897 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602348907 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602348917 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602349017 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X |
| RS1602349021 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1602349066 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602349095 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease |
| RS1602349112 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602349131 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602349248 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS1602349264 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1602349293 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS1602349302 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602349341 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS1602349383 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602349420 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602349468 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602349535 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease |
| RS1602349572 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease |
| RS1602349628 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602349655 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602349692 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS1602349785 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS1602349955 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS1602350059 | Health Risk | Pathogenic | — |
| RS2092542021 | Health Risk | Pathogenic | — |
| RS2092542190 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092542575 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092543211 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092543877 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS2092544789 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092545197 | Health Risk | Pathogenic | — |
| RS2092545247 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092545291 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092546021 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092546039 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147944334 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS2147945443 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147945607 | Health Risk | Pathogenic | — |
| RS2147945660 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147945690 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147945853 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147946047 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS2147946105 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147946234 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2147946319 | Health Risk | Pathogenic | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |