09-14-2031-0356 - Inherited disorders of trafficking / vesicular transport proteins Vesicular transport protein disorders disease diseases gen-mod genetic modified genetic modification genetics

 vte

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

https://en.wikipedia.org/wiki/Template:Vesicular_transport_protein_disorders