Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hermansky-Pudlak-Syndrome 2
AP3B1

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
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