Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Tribbles-Homolog 1

Das TRIB1-Gen kodiert einen Regulator des Kohlenhydratstoffwechsel mit Auswirkungen auch auf den Lipidstoffwechsel. Aus diesem Grunde finden sich in genomweiten Assoziationsstudien Verbindungen zur Hyperlipämie und zur korobaren Herzkrankheit. Der genaue Mechanismus der Wirkungsweise diese Proteins ist noch nicht bekannt.

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:

Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
GCKR
GPD1
MLXIPL
TRIB1

Referenzen:

1.

Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

[^]
2.

Wilkin F et al. (1997) Characterization of a phosphoprotein whose mRNA is regulated by the mitogenic pathways in dog thyroid cells.

[^]
3.

Wu M et al. (2003) SINK is a p65-interacting negative regulator of NF-kappaB-dependent transcription.

[^]
4.

Storlazzi CT et al. (2004) Identification of a commonly amplified 4.3 Mb region with overexpression of C8FW, but not MYC in MYC-containing double minutes in myeloid malignancies.

[^]
5.

Kiss-Toth E et al. (2004) Human tribbles, a protein family controlling mitogen-activated protein kinase cascades.

[^]
6.

Satoh T et al. (2013) Critical role of Trib1 in differentiation of tissue-resident M2-like macrophages.

[^]
7.

Yoshida A et al. (2013) COP1 targets C/EBPα for degradation and induces acute myeloid leukemia via Trib1.

[^]
8.

Hegedus Z et al. (2006) Tribbles: novel regulators of cell function; evolutionary aspects.

[^]
9.

Bauer RC et al. (2011) Functional validation of new pathways in lipoprotein metabolism identified by human genetics.

[^]
10.

Ahmadzadeh A et al. (2014) Genes associated with low serum high-density lipoprotein cholesterol.

[^]
11.

Bauer RC et al. (2015) Tribbles-1: a novel regulator of hepatic lipid metabolism in humans.

[^]
12.

Iwamoto S et al. (2015) The role of TRIB1 in lipid metabolism; from genetics to pathways.

[^]
13.

Kahali B et al. (2015) Insights from Genome-Wide Association Analyses of Nonalcoholic Fatty Liver Disease.

[^]
14.

Stein SJ et al. (2015) Tribbles in normal and malignant haematopoiesis.

[^]
15.

Eyers PA et al. (2017) Tribbles in the 21st Century: The Evolving Roles of Tribbles Pseudokinases in Biology and Disease.

[^]
16.

NCBI article

NCBI 10221 [^]
17.

OMIM.ORG article

Omim 609461 [^]
Update: 9. Mai 2019