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  Domain Name: LDLa
Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about 40 amino acids are present in the N-terminal of this multidomain membrane protein; 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; the binding of calcium is required for in vitro formation of the native disulfide isomer and is necessary in establishing and maintaining the modular structure
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 75
Total Disease Mutations Found: 34
This domain occurred 41 times on human genes (83 proteins).



  1
  CENANI-LENZ SYNDACTYLY SYNDROME
  CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION
  COMPLEMENT FACTOR I DEFICIENCY
  DEAFNESS, AUTOSOMAL RECESSIVE 8
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
  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)


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 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:  


Feature Name:Total Found:
calcium-binding site
putative binding surface
D-X-S-D-E motif










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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.

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