Home News About DMDM Database Statistics Research Publications Contact  

 
  Domain Name: LDLa
Low-density lipoprotein receptor domain class A. Cysteine-rich repeat in the low-density lipoprotein (LDL) receptor that plays a central role in mammalian cholesterol metabolism. The N-terminal type A repeats in LDL receptor bind the lipoproteins. Other homologous domains occur in related receptors, including the very low-density lipoprotein receptor and the LDL receptor-related protein/alpha 2-macroglobulin receptor, and in proteins which are functionally unrelated, such as the C9 component of complement. Mutations in the LDL receptor gene cause familial hypercholesterolemia.
No pairwise interactions found for the domain LDLa

Total Mutations Found: 81
Total Disease Mutations Found: 32
This domain occurred 44 times on human genes (96 proteins).



  1
  CENANI-LENZ SYNDACTYLY SYNDROME
  CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION
  COMPLEMENT FACTOR I DEFICIENCY
  DEAFNESS, AUTOSOMAL RECESSIVE 8
  FH AFRIKANER 1
  FH AFRIKANER 3
  FH DENVER 2
  FH DRUZE
  FH FRENCH CANADIAN 3
  FH GLASCO
  FH LONDON 3
  FH MAINE
  FH MEXICO
  FH PORTUGAL
  FH PUERTO RICO
  HYPERCHOLESTEROLEMIA, FAMILIAL
  IRON-REFRACTORY IRON DEFICIENCY ANEMIA
  PREECLAMPSIA/ECLAMPSIA 5
  SCLEROSTEOSIS 2 (SOST2)


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for LDLa






Weblogos are Copyright (c) 2002 Regents of the University of California




Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258