RBCC Red Blood Cell Collection

IGKC_HUMAN

Source: PM23856902
BSc_CH
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: IGKC
Protein names and data: IGKC_HUMAN , Ig kappa chain C region Lenght: 106 a.a.
Mass: 11609 Da
fasta formatted sequence
Disease: ( OMIM: 147200 614102 ) Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102]: A disease characterized by the complete absence of immunoglobulin kappa chains. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

40 - 40 W -> R (in IGKCD). VAR_066403
83 - 83 V -> L (in INV(1,2) marker). VAR_003897

Database cross-references

UniProt: P01834
MIM: 147200
MIM: 614102
neXtProt: NX_P01834
Antibodypedia: P01834 (may not find the protein thus also not any antibody)
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