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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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.
|
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.
|
3. |
Chadt A et al. (2008) Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity.
|
4. |
Paglialunga S et al. (2017) The Rab-GTPase activating protein, TBC1D1, is critical for maintaining normal glucose homeostasis and β-cell mass.
|
5. |
Jaldin-Fincati JR et al. (2017) Update on GLUT4 Vesicle Traffic: A Cornerstone of Insulin Action.
|
6. |
Zhou Z et al. (2017) Rab28 is a TBC1D1/TBC1D4 substrate involved in GLUT4 trafficking.
|
7. |
Møller CL et al. (2016) α-MSH Stimulates Glucose Uptake in Mouse Muscle and Phosphorylates Rab-GTPase-Activating Protein TBC1D1 Independently of AMPK.
|
8. |
Dokas J et al. (2016) Tbc1d1 deletion suppresses obesity in leptin-deficient mice.
|
9. |
NCBI article
NCBI 23216
|
10. |
OMIM.ORG article
Omim 609850
|
Update: 14. August 2020