Homepage  
SymptomsDiseasesGenetestsShipmentSampleContactQuality
   
 


LDLRAP1
605747


Scheme


Mutations


Pedigree


Forms


Print page


Sprache
wechseln

Gene of autosomal recessive hypercholesterolemia

Scientific background:

Summary: The protein encoded by this gene is involved in LDL receptor binding. Mutations are rare and cause hypercholesterolemia. Autosomal recessive hypercholesterolemia is a bit confusing term because all the mutations causing hypercholesterolemia exert their dose dependent influence.

Methodology:

 

clinical
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

 

clinical
test
Method Carrier testing
Turn-around time 5 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  The test is only specific about the mutation already known in this kindred.

 

research
test
Method Gene dosage measurements
Turn-around time 25 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  Of the gene rearrangements, this method is useful to detect large deletions or duplications.

Systematic link table: 

Hyperlipidemia
APOB
APOC2
APOE
LDLR
LDLRAP1
LPL

Literature: 

Michaely P et al. (2004) The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits.
Nagai M et al. (2003) The adaptor protein ARH escorts megalin to and through endosomes.
Mishra SK et al. (2002) The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.
He G et al. (2002) ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.