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Vesicular transport protein disorders
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Inherited disorders of trafficking
/
vesicular transport proteins
Vesicle formation
Lysosome
/
Melanosome
:
HPS1
–
HPS7
Hermansky–Pudlak syndrome
LYST
Chédiak–Higashi syndrome
COPII
:
SEC23A
Cranio-lenticulo-sutural dysplasia
COG7
CDOG IIE
APC:
AP1S2
X-linked intellectual disability
AP3B1
Hermansky–Pudlak syndrome 2
AP4M1
CPSQ3
Rab
ARL6
BBS3
RAB27A
Griscelli syndrome 2
CHM
Choroideremia
MLPH
Griscelli syndrome 3
Cytoskeleton
Myosin
:
MYO5A
Griscelli syndrome 1
Microtubule
:
SPG4
Hereditary spastic paraplegia 4
Kinesin
:
KIF5A
Hereditary spastic paraplegia 10
Spectrin
:
SPTBN2
Spinocerebellar ataxia 5
Vesicle fusion
Synaptic vesicle
:
SNAP29
CEDNIK syndrome
STX11
Hemophagocytic lymphohistiocytosis 4
Caveolae
:
CAV1
Congenital generalized lipodystrophy 3
CAV3
Limb-girdle muscular dystrophy 2B
,
Long QT syndrome 9
Vacuolar protein sorting
:
VPS33B
ARC syndrome
VPS13B
Cohen syndrome
DYSF
Distal muscular dystrophy
See also
vesicular transport proteins
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