MTTP
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MTTP (HGNC:7467) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
microsomal triglyceride transfer protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MTP
Alias symbols
ABL
%HI
40.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.67(Read more about gnomAD LOEUF score)
Cytoband
4q23
Genomic Coordinates
GRCh37/hg19: chr4:100485287-100545154 NCBI Ensembl UCSC
GRCh38/hg38: chr4:99564130-99623997 NCBI Ensembl UCSC
MANE Select Transcript
NM_001386140.1 ENST00000265517.10 (Read more about MANE Select)
Function
Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:23475612, PubMed:8939939, PubMed:26224785, PubMed:25108285, PubMed:22236406, PubMed:16478722, PubMed:15897609, PubMed:8876250). Required for the assembly and secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:23475612, PubMed:8939939, PubMed:26224785, PubMed:8876250, PubMed:16478722). May be involved in regulating cholesteryl ester biosynthesis in cells that prod... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4052
ClinGen Curation ID:
CCID:007498
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)