HMM Summary Page: TIGR00917

FunctionNiemann-Pick C type protein family
Trusted Cutoff1016.50
Domain Trusted Cutoff1016.50
Noise Cutoff1004.70
Domain Noise Cutoff1004.70
Isology Typesubfamily
HMM Length1204
Mainrole CategoryTransport and binding proteins
Subrole CategoryOther
AuthorLoftus BJ, Ujwal ML, Paulsen IT
Entry DateSep 13 2000 10:27AM
Last ModifiedFeb 14 2011 3:27PM
CommentThe model describes Niemann-Pick C type protein in eukaryotes. The defective protein has been associated with Niemann-Pick disease which is described in humans as autosomal recessive lipidosis. It is characterized by the lysosomal accumulation of unestrified cholesterol. It is an integral membrane protein, which indicates that this protein is most likely involved in cholesterol transport or acts as some component of cholesterol homeostasis.