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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 18/10/2008 |
Symbol | ABLP |
Location | 4q24 |
Name | abetalipoproteinemia |
Other name(s) | Bassen-Kornzweig syndrome |
Corresponding gene | MTTP |
Other symbol(s) | MTTP, ABL |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/lipoprotein-lipid |
neurology | |
hematology | |
Type | disease |
Gene product |
Name | microsomal triglyceride transfer protein (MTP), required for normal assembly and secretion of apoB-containing proteins. The resulting vitamin E deficiency causes the neurologic syndrome. |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
| uniparental disomy
|  
| maternal isodisomy in one case
| |
Remark(s) |