Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

TBC1-Domän-Familienmitglied 1

Das TBC1D1-Gen kodiert ein Protein welches in die Regulation von Zellwachstum und Differenzierung involviert ist. Insbesondere findet sich eine Beteiligung an den Prozessen der Regulation des Glucosestoffwechsels.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Erbliche Diabetesneigung
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1

Referenzen:

1.

Kikuno R et. al. (1999) Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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2.

White RA et. al. (2000) The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene, BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4.

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3.

Chadt A et. al. (2008) Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity.

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4.

Paglialunga S et. al. (2017) The Rab-GTPase activating protein, TBC1D1, is critical for maintaining normal glucose homeostasis and β-cell mass.

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5.

Jaldin-Fincati JR et. al. (2017) Update on GLUT4 Vesicle Traffic: A Cornerstone of Insulin Action.

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6.

Zhou Z et. al. (2017) Rab28 is a TBC1D1/TBC1D4 substrate involved in GLUT4 trafficking.

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7.

Møller CL et. al. (2016) α-MSH Stimulates Glucose Uptake in Mouse Muscle and Phosphorylates Rab-GTPase-Activating Protein TBC1D1 Independently of AMPK.

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8.

Dokas J et. al. (2016) Tbc1d1 deletion suppresses obesity in leptin-deficient mice.

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