Chemistry Reference
In-Depth Information
Table 23.1
Continued
Glycogenes and enzymes (abbreviations)
Phenotypes of KO mice
Molecular functions (section
number)
(B.3)
O
- GlcNAc
polypeptide
O
-
β
- GlcNAcT (PoGlcNAcT,
embryonic
stem
cell
unknown, multiple
Ogt)
death
(C) Glycolipid
GlcCer synthase
embryonic lethality
unknown ( 23.2.4 )
GalCer synthase (Cgt)
tremor, ataxia, paralysis,
male sterility
myelin formation and maintenance,
spermatogenesis
sulfatide synthase (Cst)
tremor, ataxia, paralysis,
male sterility
myelin maintenance, spermatogen-
esis
GM3 synthase
enhanced insulin sensi-
tivity, deaf
regulation of the insulin receptor
signal ( 23.2.6 )
GD3 synthase
reduced nerve regenera-
tion
unknown
( 23.1 )
GM2/GD2 synthase
late - onset neuronal de-
generation, male sterili-
ty
maintenance of neurons, transpor-
tation of testosterone (23.2.4)
Gb3 (CD77) synthase
normal,
resistant
to
production of the verotoxin recep-
tor
verotoxin
(D) Proteoglycans
(D.1) HS/heparin chain
polymerase EXT - 1
embryonic lethality
modulation of signaling pathways
( 23.2.4 )
polymerase EXT - 2
embryonic lethality (null
mutant), ectopic bone
growth (heterozygous)
modulation of signaling pathways
( 23.2.4 )
N
- deacetylase/
N
- sulfotransferase (NDST - 1)
neonatal death, pulmo-
nary atelectasis, defects
of the forebrain
modulation of signaling pathways
( 23.2.4 )
N
- deacetylase/
N
- sulfotransferase (NDST - 1)
defects in mast cells
production of sulfated heparin
( 23.2.5 )
C5 - epimerase
neonatal death, renal
agenesis, lung defects,
skeletal malformation
modulation of signaling pathways
( 23.2.4 )
heparan sulfate 2 -
O
- sulfotransferase
(2 - OST)
neonatal death, renal
agenesis, defects of the
eye and skeleton
modulation of signaling pathways
( 23.2.4 )
heparan sulfate 6 -
O
- sulfotransferase
(6 - OST - 1)
embryonic or perinatal
lethality
modulation of signaling pathways
heparan sulfate 3 -
O
- sulfotransferase
(3 - OST - 1)
normal hemostasis
( 23.2.5 )
(D.2) chondroitin sulfate chain
chondroitin 6 - sulfotransferase (C6ST - 1)
decreased naive T lym-
phocytes in the spleen
unknown
chondroitin 4 - sulfotransferase (C4ST - 1)
neonatal death, multiple
skeletal abnormalities
modulation of signaling pathways,
cartilage growth plate morphogene-
sis
