Gene: [14q31/GALC] galactosylceramidase (galactocerebrosidase); leukodystrophy, globoid cell (Krabbe disease);
COM | Lyerla-1989 showed that, for restoration of the GC activity in interspecies hybrid cells obtained by confluence of fibroblasts of humans and GC-defective 'twitcher' mice, human Chr 17 is required. However, the localization of 'twitcher' mutation in murine Chr 12 allowed to suggest the localization of the human homologue in the homologous Chr 14. This was confirmed in the study of Zlotogora-1990, which revealed a close linkage of GALC with Chr 14 (but not 17) markers, e.g., with D14S24 nucleotide sequence mapped to 14q11.2-24.3. Cannizzaro-1994 assigned GALC to 14q31 by in situ hybridization." |
FUN | Systematic name: D-galactosyl-N-acylsphingosine galactohydrolase. The reaction catalyzed: D-galactosyl-N-acylsphingosine + H(2)O = = D-galactose + N-acylsphingosine." |
MOD | Twitcher mouse (Kobayashi-1980,1982; Kodama-1982). |
REF | PAT,MEB,FOG
"Ben-Yoseph &: AJHG, 30, 644-652, 1978 LOC "Cannizzaro LA &: CCG, 66, 244-245, 1994 PAT,MEB,FOG "Crome &: Brain, 96, 841-848, 1973 PAT,MEB,MOD,MOU "Duchen &: Brain, 103, 695-710, 1980 PAT,MEB,MOD,MOU "Eto &: J Inherit Metab Dis, 6, 125-126, 1983 PND "Harzer &: Hum Genet, 77, 342-344, 1987 PAT,MEB,MOD,MOU "Ichioka &: PNAS, 84, N12, 4259-4263, 1987 PAT,MEB,MOD,MOU "Igisu, Suzuki: Science, 224, 753-755, 1984 PAT,MEB,MOD,MOU "Kobayashi T &: Biochem Med, 27, N1, 8-14, 1982 PAT,MEB,MOD,MOU "Kobayashi T &: Brain Res, 202, 479-483, 1980 HIS,PAT,PHE,FOG "Krabbe K: Brain, 39, 74-114, 1916 PAT,MEB,FOG "Loonen &: Neuropediat, 16, 137-142, 1985 COM,LOC,CYG,EXP "Lyerla TA &: AJHG, 44, 198-207, 1989 PAT,MEB,FOG "Suzuki, Suzuki: Science, 171, 73-74, 1971 PAT,MEB,FOG "Suzuki, Suzuki: PNAS, 66, 302-309, 1970 COM,LOC,LIN,EXP "Zlotogora J &: AJHG, 47, 37-44, 1990 PAT,MEB,FOG "Zlotogora J &: Am J Med Genet, 21, 765-770, 1985 |
SWI | SWISSPROT: P54803 |
KEY | carb, neu, mtbd |
CLA | coding, basic |
LOC | 14 q31 |
MIM | MIM: 245200 |
EZN | ENZYME: 3.2.1.46 |
