Gene: [02p12/IGKC] immunoglobulin, kappa subunit, constant region;
MOP | It is the CON region of kappa peptide that is related with the expression of the antigenic determinant referred to as Inv in early reports. Since late 1970s, the denotation Km (Kappa Marker) have been used. It is presumed that, when an analogous antigenic determinant related to the lambda peptide (another Ig light subunit) is found, this allotype should be denoted as Lm (Lambda Marker); up to the present, such an antigen has not been found." |
HIS | The data of some reports in 1970s on a possible linkage of Km/Inv allotype to Kidd isoantigen (Jk gene) was not confirmed. In 1980s, Jk gene was mapped to chromosome 18q with the aid of MGM (linkage to PRLP), as well as by the method of in situ hybridization on chromosome." |
CAG | Several sporadic and familial cases of a complete loss of kappa chain synthesis are described in literature; those are accounted for by mutations of the gene for CON peptide. The definite clinical manifestation of this IGK deficiency is not revealed, perhaps because the lacking kappa chains are substituted by other subunits (probably H-gamma ones)." |
REF | FOG "Ambrosino &: J Clin Invest, 78, 361-365,
1986 CAG,PAT "Barandun &: Blood, 47, 79-89, 1976 CAG,PAT "Bernier &: Blood, 40, 795-805, 1972 LIN "Field &: CCG, 40, (HGM8), 628-629, 1985 LIN "Geitvik GA &: Hum Genet, 77, 205-209, 1987 LIN "Greiner J &: Hum Genet, 63, 222-227, 1983 LIN "Keats BJ &: CCG, 22, (HGM4), 304-308, 1978 LIN "Keats BJ &: Hum Genet, 39, 157-159, 1977 LIN "Pausch V, Mayr: Hum Hered, 37, 260-262, 1987 LIN "Sherman, Simpson: CCG, 40, (HGM8), 743, 1985 CAG,PAT "Stavnezer-Nordgren J &: Science, 230, N4724 (25 Oct), 458-461, 1985 FOG "Terry &: PNAS, 63, N1, 71-77, 1969 FOG "van Loghem E: (in) Immunohaematol, Elsv Sci Publ B.V., 58-71, 1984 CAG,PAT "Zegers &: New Engl J Med, 294, 1026-1030, 1976 GEN,SEQ,MAF,LOC,EXP "see GEM:02p12/IGKJ1 and FAM:IGK/02p12 |
SWI | SWISSPROT: P01834 |
KEY | imm, img, ant |
CLA | coding, basic |
LOC | 02 p12 |
MIM | MIM: 147200 |
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