Supplementary Table 158–1. Defects of Cargo Sorting and Vesicle ...

(216550) S.c. vacuolar protein
Combined deficiency
of coagulation factors
V and VIII
(227300)
Hermansky–Pudlak
syndrome (HPS;
203300)
sorting factor Vps13p
(COH1)
ERGIC-53, ER-Golgi
intermediate
compartment sorter
(LMAN1)
-MCFD2, forms a
complex with ERGIC-53
(MCFD2)
-type 2: adaptor-related
protein complex 3 beta-1
subunit (AP3B1).
-types 1, 3–8:
components of the
biogenesis of lysosome-
related organelles
complexes (BLOC) 1, 2
nonprogressive
psychomotor retardation,
retinal dystrophy,
intermittent neutropenia
Bleeding disorder
characterized by
coordinate reduction of
clotting factors V and VIII
Oculo-cutaneous albinism,
platelet defects with
prolonged bleeding, types
1 and 4: pulmonary
fibrosis, type 2:
neutropenia and mild
immunodeficiency
Cell biological consequences not
extensively studied; Multiple
neurological defects;
Retinochoroidal dystrophy,
neutropenia (not in all subjects)
Defective secretion of
coagulation factors V and VIII
due to disturbed sorting to ER-
Golgi carrier vesicles
Defective biogenesis of
lysosome-related organelles
(melanosomes, platelet dense
granules, lamellar bodies of type
II alveolar epithelial cells, T-
lymphocyte lytic granules);
Leakage of lysosomal membrane
proteins to cell surface
Kolehmainen et al., 2003;
Velayos-Baeza et al., 2004
Nichols et al., 1998;
Zhang et al., 2003; Zhang
et al., 2005; Zhang et al.,
2006
Boissy et al., 1998;
Dell’Angelica et al., 1999;
Huizing et al., 2001;
Robinson and Bonifacino,
2001; Clark et al., 2003;
Nazarian et al., 2003;
Huizing et al., 2004;
Peden et al., 2004; Di