MTTP

Chr 4q23

microsomal triglyceride transfer protein

Aliases:: ABL
MANE:: ENST00000265517.10

OMIM: 157147 ↗NCBI: 4547 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MTTP · P55157

v62025-08-01

Predicted Aligned Error matrix for MTTP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.6/ 100

Confident

894 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)37%
Low(50–70)5%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

abetalipoproteinemia
0.83
Hypercholesterolemia
0.53
familial hypercholesterolemia
0.53
hereditary disease
0.42
cardiovascular disorder
0.37
metabolic syndrome X
0.36
homozygous familial hypercholesterolemia
0.34
liver disorder
0.31
metabolic dysfunction-associated steatotic liver disease
0.30
Abnormality of the liver
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Microsomal triglyceride transfer protein large subunit

Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:15897609, PubMed:16478722, PubMed:22236406, PubMed:23475612, PubMed:25108285, PubMed:26224785, PubMed:8876250, PubMed:8939939). Required for the assembly and secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:16478722, PubMed:23475612, PubMed:26224785, PubMed:8876250, PubMed:8939939). May be involved in regulating cholesteryl ester biosynthesis in cells that produce lipoproteins (By similarity)