Entity Details
Primary name |
CLCC1_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q96S66 |
EntryName | CLCC1_HUMAN |
FullName | Chloride channel CLIC-like protein 1 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 551 |
SequenceStatus | complete |
DateCreated | 2007-08-21 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Endoplasmic reticulum membrane |
Golgi apparatus membrane |
Nucleus membrane |
Domains
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Domain | Name | Category | Type |
IPR009231 | Chloride channel CLIC-like | Family | Family |
Diseases
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Disease ID | Source | Name | Description |
609913 | OMIM | Retinitis pigmentosa 32 (RP32) | A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP32 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions