Hermansky-Pudlak syndrome 2 is an autosomal recessive disorder caused by mutations of the AP3B1 gene. It is characterized by oculocutaneous albinism, bleeding disorder and, in some cases, pulmonary fibrosis or granulomatous colitis.
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Dell'Angelica EC et al. (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. |
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Huizing M et al. (2002) Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. |
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Clark RH et al. (2003) Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. |
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Jung J et al. (2006) Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. |
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None (1999) Multi-organellar disorders of pigmentation: tied up in traffic. |
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Sugita M et al. (2002) Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells. |
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Fontana S et al. (2006) Innate immunity defects in Hermansky-Pudlak type 2 syndrome. |