Annotation Detail
Information
- Associated Genes
- MTTP
- Associated Variants
-
MTTP p.Ile128Thr (p.I128T)
(
ENST00000265517.10,
ENST00000422897.6,
ENST00000457717.6,
ENST00000511045.6 )
MTTP p.Ile128Thr (p.I128T) ( ENST00000265517.10, ENST00000422897.6, ENST00000457717.6, ENST00000511045.6 ) - Associated Disease
- Dyslipidemias
- Source Database
- DisGeNET
- Description
- Emerging evidence has indicated that the functional MTP exon polymorphism I128T is associated with dyslipidemia and other traits of the insulin-resistance syndrome, and the T128 variant seems to confer a reduced stability of MTP, resulting in reduced binding of LDL particles.
- Pubmed
- 16721486
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00672003345355102
- Year of publication
- 2006
Drugs