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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