Gene: [21q223/CSTB] cystatin B (cystatin 6; stefin B); epilepsy, progressive myoclonic 1 (Unverricht-Lundborg type; MIM:254800); [STF2 EPM1 ]
FAG | Stefin A (GEM:03q13/CSTA) and stefin B belong to the stefin family of the cystatin superfamily (see GEM:20p112/CST1)." |
FUN | A cystein proteinase inhibitor lacking disulfide bonds. |
CAG | Progressive myoclonic epilepsy 2 (Lafora type) was mapped to Chr 6q2 (GEM:06q2/EPM2)." |
REF | MUT "Bespalova IN &:
Am J Med Genet, 74, N5, 467-471, 1997 EXP,FUN "Jerala R &: FEBS Lett, 239, N1, 41-44, 1988 MUT "Lafreniere RG &: Nature Genet, 15, N3, 298-302, 1997 MUT "Lalioti MD &: AJHG, 60, N2, 342-351, 1997a MUT "Lalioti MD &: Nature, 386, N6627, 847-851, 1997b MUT "Lalioti MD &: Nature Genet, 17, N1, 17-17, 1997c LIN,LOC "Lehesjoki AE &: Hum Genet, 93, 668-674, 1994 LIN,LOC "Lehesjoki AE &: Hum Mol Genet, 2, 1229-1234, 1993 LIN,LOC "Lehesjoki AE &: CCG, 58, (HGM11), 2037, 1991a LIN,LOC "Lehesjoki AE &: PNAS, 88, 3696-3699, 1991b LIN,LOC "Muenke M &: AJHG, 57, 1074-1079, 1995 CLO,SEQ,STR,MUT "Pennacchio LA &: Science, 271, 1731-1733, 1996 SEQ "Ritonja A &: BBRC, 131, 1187-1192, 1985 STR,MOP,FUN "Stubbs MT &: EMBO J, 9, 1939-1947, 1990 REV "Turk V, Bode W: FEBS Lett, 285, 213-219, 1991 MUT "Virtaneva K &: Nature Genet, 15, N4, 393-396, 1997 CLO,LOC "Yamakawa K &: Hum Mol Genet, 4, 709-716, 1995 |
SWI | SWISSPROT: P04080 |
KEY | pep, neu, mfd |
CLA | coding, basic |
LOC | 21 q22.3 |
MIM | MIM: 601145 |
SYN | STF2 EPM1 |
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