| Symbol
| FHBL1
|
| Location
| 2p24.1
|
| Name
|
familial hypobetalipoproteinemia type 1 |
| Corresponding gene
|
APOB
|
| Main clinical features
|
fat malabsorption, lack of cholesterol, triglyceride and fat-soluble vitamin absorption and transport from the small intestine and reduced plasma cholesterol
progressive neurologic disease with retinis pigmentosa and acanthocytosis |
| Genetic determination
| autosomal dominant |
| Related entries
| FHBL2, FDB
|
| Function/system disorder
| metabolism/lipoprotein-lipid |
|
| neurology |
|
| hematology |
| Type
| disease
|
| Name
| apolipoprotein B (APOB)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
|
| truncated forms of APOB due to deletion/substitution, transitions type mutations
| |
| Remark(s)
|
mutant L343V and R463W altered folding of the alpha-helical domain within the N terminus of apoB (proper folding of the -helical domain within the N terminus of apoB is important for efficient secretion of apoB-containing lipoproteins) |
| Genotype/Phenotype correlations
|
autosomal codominant trait, obligate heterozygote show isolated hypocholesterolemia |