Inherited disorders of trafficking

Inherited disorders of trafficking (IDT) are a family of disorders that involve vesicular delivery of proteins.^[1]

They were characterized in 1975.^[2]

References

↑ Gissen P, Maher ER (September 2007). "Cargos and genes: insights into vesicular transport from inherited human disease". J. Med. Genet. 44 (9): 545–55. doi:10.1136/jmg.2007.050294. PMC 2597945. PMID 17526798.
↑ Palade G (August 1975). "Intracellular aspects of the process of protein synthesis". Science 189 (4200): 347–58. doi:10.1126/science.1096303. PMID 1096303.

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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