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