Gene: [10q23/HPS] Hermansky-Pudlak syndrome;

PAT

Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes, platelet dense bodies, and lysosomes."

REF

LIN,LOC "Fukai K &: Hum Mol Genet, 4, N9, 1665-1669, 1995
HET "Hazelwood S &: AJHG, 61, N5, 1088-1094, 1997
CLO,SEQ,MUT "Oh J &: Nature Genet, 14, N3, 300-306, 1996
LIN,LOC "Wildenberg SC &: AJHG, 57, N4, 755-765, 1995

CLA

unknown, basic

LOC

10 q23

MIM

MIM: 203300