AP-3-Komplex Untereinheit beta-1
Das AP3B1-Gen kodiert ein Protein des AP-3-Komplexes, der an der Biogenese von Organellen, wie Melanosomen, Granula densa der Thrombozyten und Lysosomen, beteiligt ist. Mutationen führen zu autosomal rezessivem Hermansky-Pudlak syndrome type 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lothrop CD et al. (1987) Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems.
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2. |
Balkema GW et al. (1983) Discrete visual defects in pearl mutant mice.
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3. |
Kotzot D et al. (1994) Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
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4. |
Simpson F et al. (1997) Characterization of the adaptor-related protein complex, AP-3.
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5. |
Dell'Angelica EC et al. (1997) Beta3A-adaptin, a subunit of the adaptor-like complex AP-3.
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6. |
Dell'Angelica EC et al. (1998) Association of the AP-3 adaptor complex with clathrin.
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7. |
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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8. |
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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9. |
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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10. |
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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11. |
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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12. |
Benson KF et al. (2003) Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
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13. |
Clark RH et al. (2003) Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.
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14. |
Jung J et al. (2006) Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.
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15. |
Enders A et al. (2006) Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
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16. |
Sasai M et al. (2010) Bifurcation of Toll-like receptor 9 signaling by adaptor protein 3.
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Update: 14. August 2020