Gene: [07q1123/NCF1] neutrophil cytosolic factor 1 (47kD); NADPH oxidase, neutrophil, cytosolic factor 1 (47 kD); chronic granulomatous disease, autosomal 1; [SOC2 CGD1 ]
COM | On the basis of the results of a study on cultured interspecies hybrid cells (Hsieh-1989), the gene NCF1 was presumed to be located in Chr 10. Later the presumption was disproved in experiments with in situ hybridization (Francke-1990), and the gene was mapped to Chr 7q11.23." |
FAG | A gene for the second cytoplasmic factor (NCF2, 65 kD), which deficiency occurs less frequently in chronic granulomatous disease, is located in Chr 1q (GEM:01q25/NCF2). The neutrophil cytosolic factor 4 (40kD) has been mapped to Chr 22q13.1 (GEM:22q131/NCF4)." |
FUN | The product of the gene NCF1 is one of the components of neutrophil NADPH oxidase." |
PRO | p08448 (clone name NCF-1 8A). |
REF | PAT,PHE,MEB "Bohler &:
J Clin Immunol, 6, 136-145, 1986 MEB,PAT "Caldwell &: J Clin Invest, 81, 1485-1496, 1988 PAT,PHE,FOG,MEB "Clark &: New Engl J Med, 321, 647-652, 1989 PAT,PHE,MEB "Curnutte &: J Clin Invest, 81, 606-610, 1988 PRO,LOC "Francke U &: AJHG, 47, N3, 483-492, 1990 PAT,PHE,MEB "Heyworth, Segal: Biochem J, 239, 723-731, 1986 COM,FAG "Hsieh &: CCG, 51, (HGM10), 1015-1016, 1989 PAT,PHE,MEB "Nunoi &: Science, 242, 1298-1301, 1988 REV,PAT,PHE,MEB "Segal &: Eur J Clin Invest, 18, 433-443, 1988 REV,PAT,PHE,MEB "Segal &: Lancet, 1, 1378-1383, 1985 PRO,COD,SEQ,EXP "Volpp BD &: PNAS, 86, N18, 7195-7199, 1989a SEQ,COD "Volpp BD &: PNAS, 86, N23 (Correction), 9563, 1989b PAT,PHE,MEB "Volpp BD &: Science, 242, 1295-1297, 1988 |
SWI | SWISSPROT: P14598 |
KEY | onc, hem, imm |
CLA | coding, basic |
LOC | 07 q11.23 |
MIM | MIM: 233700 |
SYN | SOC2 CGD1 |
