Entity Details
| Primary name |
CLCN4_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P51793 |
| EntryName | CLCN4_HUMAN |
| FullName | H(+)/Cl(-) exchange transporter 4 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 760 |
| SequenceStatus | complete |
| DateCreated | 1996-10-01 |
| DateModified | 2021-04-07 |
Subcellular Location
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| Subcellular Location |
| Early endosome membrane |
| Endoplasmic reticulum membrane |
| Late endosome membrane |
| Lysosome membrane |
| Recycling endosome membrane |
Domains
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| Domain | Name | Category | Type |
| IPR000644 | CBS domain | Domain | Domain |
| IPR001807 | Chloride channel, voltage gated | Family | Family |
| IPR002246 | Chloride channel ClC-4 | Family | Family |
| IPR014743 | Chloride channel, core | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 300114 | OMIM | Raynaud-Claes syndrome (MRXSRC) | An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction