RBCC Red Blood Cell Collection

CCS_HUMAN

Source: hRBCD ; ID: IPI00021389
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: CCS
Protein names and data: CCS_HUMAN , Copper chaperone for superoxide dismutase , Superoxide dismutase copper chaperone Lenght: 274 a.a.
Mass: 29041 Da
fasta formatted sequence
Function: Delivers copper to copper zinc superoxide dismutase (SOD1).
Cellular location: Cytoplasm.
Tissue specificity: Ubiquitous.

Genetic variants

163 - 163 R -> W (found in a patient with congenital cataracts, hearing loss, neurodegeneration, neonatal hypotonia and hypoglycemia, pericardial effusion and neurodevelopmental regression after infection; the patient also carries a mutation in SLC33A1; mutant protein does not interact with SOD1; dbSNP:rs142340643). VAR_068078 142340643

Database cross-references

UniProt: O14618
Ensembl: ENST00000533244
MIM: 603864
neXtProt: NX_O14618
Antibodypedia: O14618 (may not find the protein thus also not any antibody)
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