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AP-3 complex subunit beta-1

The AP3B1 gene encodes a protein component of the AP-3 complex which contributes to organelle biogenesis such as melanosomes, platelet dense granules, and lysosomes. Mutations cause austosomal recessive Hermansky-Pudlak syndrome 2.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hermansky-Pudlak syndrome 2



Lothrop CD et al. (1987) Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems.

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Balkema GW et al. (1983) Discrete visual defects in pearl mutant mice.

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Kotzot D et al. (1994) Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

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Simpson F et al. (1997) Characterization of the adaptor-related protein complex, AP-3.

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Dell'Angelica EC et al. (1997) Beta3A-adaptin, a subunit of the adaptor-like complex AP-3.

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Dell'Angelica EC et al. (1998) Association of the AP-3 adaptor complex with clathrin.

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Feng L et al. (1999) The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.

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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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Zhen L et al. (1999) Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.

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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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Feng L et al. (2002) The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.

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Benson KF et al. (2003) Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.

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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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Enders A et al. (2006) Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.

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Sasai M et al. (2010) Bifurcation of Toll-like receptor 9 signaling by adaptor protein 3.

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Update: Aug. 14, 2020
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