Gene: [21q223/S100B] S100 calcium-binding protein, beta (neural);
PRO | Probes: (1) pKN3, a 232-bp cDNA fragment, (2) pHS100.A, a 5-kb gDNA fragment containing the full gene coding region, (3) pHS22.4, a 746-bp EcoRI-HindIII gDNA fragment containing the 5'-region of of the gene (including the exon for the first 46 amino acids and flanking regions of two introns)." |
PAT | Allore-1988 supposed that, since segment q22 is most frequently trisomic in Down disease, the product of the gene S100B might be involved in the pathogenesis of this disease." |
REF | CLO,SEQ,GEN "Allore RJ
&: JBC, 265, 15537-15543, 1990 PRO,LOC "Allore RJ &: Science, 239, (11 Mar), 1311-1313, 1988 FUN "Avramopoulos D &: Genomics, 15, 98-102, 1993 CLO,SEQ,GEN,LOC "Burmeister M &: Genomics, 9, 19-30, 1991 FUN "Cheng JF &: Genomics, 23, 75-84, 1994 FUN "Chumakov I &: Nature, 359, 380-387, 1992 PRO,LOC "Duncan AMV &: CCG, 50, 234-235, 1989 PRO,RAT "Dunn R &: JBC, 262, N8, 3562-3566, 1987 EXP,ONT,RAT "Landry &: Mol Brain Res, 6, 251-262, 1989 FUN "McInnis MG &: Genomics, 16, 562-571, 1993 CLO,SEQ,GEN,LOC "Morii K &: BBRC, 175, 185-191, 1991 FUN "Reeves RH &: PNAS, 91, 5359-5363, 1994 STR,MOP "Smith SP, Shaw GS: J Biomol NMR, 10, N1, 77-88, 1997 |
SWI | SWISSPROT: P04271 |
KEY | neu, ion, trp |
CLA | coding, basic |
LOC | 21 q22.3 |
MIM | MIM: 176990 |
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