Gene: [11p154/SMPD1] sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase); Niemann-Pick disease A/B (sphingomyelin lipidosis);


CAG

About Niemann-Pick disease type C see GEM:18q11/NPC1 and 00/NPC2.

REF

FOG,POL "Arias &: CCG, 51, (HGM10), 953, 1989
HIS,PAT,PHE,FOG "Brady RO: New Engl J Med, 275, 312-318, 1966
LOC "da Veiga Pereira L &: Genomics, 9, N2, 229-234, 1991
MUT "Ferlinz K &: AJHG, 56, 1343-1349, 1995
MUT "Ferlinz K &: BBRC, 179, 1187-1191, 1991
MUT "Ida H &: Hum Mut, 7, 65-67, 1996
LOC,CYG "Konrad, Wilson: CCG, 46, (HGM9), 641, 1987
MUT "Levran O &: Hum Mut, 2, 317-319, 1993
MUT "Levran O &: Blood, 80, 2081-2087, 1992
MUT "Levran O &: J Clin Invest, 88, 806-810, 1991a
MUT "Levran O &: PNAS, 88, 3748-3752, 1991b
HIS,PAT,PHE,FOG "Pfaendler U: Helv Med Acta, 20, 216-241, 1953
FUN "Santana P &: Cell, 86, 189-199, 1996
CLO,SEQ "Schuchman EH &: Genomics, 12, 197-205, 1992
PAT "Sperl W &: J Inherit Metab Dis, 17, 93-103, 1994
MUT "Takahashi T &: Hum Mut, 1, 70-71, 1992a
MUT "Takahashi T &: JBC, 267, 12552-12558, 1992b
HIS,PAT,PHE,FOG "Terry &: Am J Pathol, 30, 263-285, 1954
MUT "Vanier MT &: Hum Genet, 92, 325-330, 1993
LOC,CYG "Wilson, Konrad: AJHG, 41, A191, 1987

KEY

lys, neu, lip, mtbd

CLA

coding, basic

LOC

11 p15.4

MIM

MIM: 257200

EZN

ENZYME: 3.1.4.12

Смотрите также:

  • Болезнь Нимана-Пика. Строение гена сфингомиелиназы (ASM; SMPD1)
  • Сфингомиелиназа кислая (ASM; SMPD1, A-SMase))
  • Болезнь Нимана-Пика. Локализация гена
  • ген A-SMase
  • сфингомиелинфосфодиэстераза-HUGEN
  • HUGEN-сфингомиелиназа