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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