Gene table of MTTP : microsomal triglyceride transfer protein

Gene-disease associations table

Disease IDDisease nameSource of annotation with MTTPOMIM linkNumber of associated genesgenes
200100ABETALIPOPROTEINEMIAClinVar, OMIM, HUMSAVAR link to OMIM 1MTTP
PS605552ABDOMINAL OBESITY-METABOLIC SYNDROMEOMIM link to OMIM 2DYRK1B, MTTP
PS108600SPASTIC ATAXIAOMIM link to OMIM 7MTPAP, SACS, MTTP, AFG3L2, KIF1C, VAMP1, MARS2

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Annotation of the gene MTTP

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Fat digestion and absorptionhsa049757.45
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Lipoprotein metabolismR-HSA-1748248.23
MetabolismR-HSA-14307282.34
Chylomicron-mediated lipid transportR-HSA-1748009.18
Lipid digestion, mobilization, and transportR-HSA-739237.2
Associated GO terms for Molecular function
GO termGO IDGO IC
phospholipid transporter activityGO:00055485.87
lipid transporter activityGO:00053195.03
substrate-specific transporter activityGO:00228922.72
transporter activityGO:00052152.57
lipid bindingGO:00082893.26
bindingGO:00054880.18
protein bindingGO:00055150.46
protein dimerization activityGO:00469832.72
protein heterodimerization activityGO:00469823.64
apolipoprotein bindingGO:00341856.97