Gene: [16p121/CLN3] ceroid-lipofuscinosis, neuronal 3 (juvenile amaurotic family idiocy); Batten disease (neuronal ceroid-lipofuscinosis); juvenile amaurotic family idiocy (Vogt-Spielmeyer/Sjogren disease); [BTS NCL ]
COM | The International Batten Disease Consortium (1995), comprising 27 individuals in 9 different institutions, isolated the CLN3 gene. This gene encodes a novel 438-amino acid protein of unknown function. Thus they found that the common mutation is a small deletion, whereas probably a number of different mutations account for the other Batten disease chromosomes." |
LIN | Linkage mapped between D16S288 and D16S383 (Mitchison-1995). |
GEN | Exons: 15; introns: 14 (Mitchison-1997a). |
HET | Several clinical genetic forms of amaurotic family idiocies are distingushed, mainly by age of onset of the degenerative process; see GEM:01p32/PPT." |
REL | GEM:16p133/MEFV. |
REF | LOC,LIN "Callen &:
AJHG, 49, N6, 1372-1377, 1991 LOC,LIN "Eiberg H &: Clin Genet, 36, 217-218, 1989 HIS,PAT,FOG "Gordon &: Arch Dis Child, 47, 285-291, 1972 PAT,FOG "Hofman IL, Taschner PEM: Am J Med Genet, 57, 165-167, 1995 LOC,LIN,SEQ "International Batten Disease Consortium: Cell, 82, 949-957, 1995 MUT,PAT,PND "Jarvela IE &: Am J Med Genet, 57, 316-319, 1995 PAT "Jolly RD: Neurochem Res, 20, 1301-1304, 1995 LOC,LIN,PAT "Lerner TJ &: AJHG, 54, 88-94, 1994 GEN,SEQ "Mitchison HM &: Genomics, 40, N2, 346-350, 1997a GEN,FUN,EXP,PAT "Mitchison HM &: Neuropediat, 28, N1, 12-14, 1997b LOC,LIN "Mitchison HM &: Am J Med Genet, 57, 312-315, 1995 LOC,LIN "Mitchison HM &: Genomics, 22, 465-468, 1994 LOC,LIN "Mitchison HM &: Genomics, 16, 455-460, 1993 HIS,PAT,FOG "Sjogren T: Hereditas, 14, 197-426, 1931 |
SWI | SWISSPROT: Q13286 |
KEY | neu, lip |
CLA | coding, basic |
LOC | 16 p12.1 |
MIM | MIM: 204200 |
SYN | BTS NCL |
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