Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
NA |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
These are CLN 1 , Infantile ; CLN 2 , Late Infantile ; CLN 3 , Juvenile ; CLN 4 , Adult Recessive ; CLN 5 , Adult Dominant ; and CLN 6 , Early Juvenile . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
Subunit c of mitochondrial ATP synthase specifically accumulates in most of them , including the juvenile CLN 3 form and a sheep form orthologous to CLN 6 . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
Exclusion mapping showed that CLN 7 was not an allelic variant of known NCL loci ( CLN 1 , CLN 2 , CLN 3 , CLN 5 or CLN 6 ) . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
Mutations have been identified in six distinct genes / proteins , namely CLN 1 , which encodes PPT 1 , a protein thiolesterase ; CLN 2 , which encodes TPP 1 , a serine protease ; and CLN 3 , CLN 5 , CLN 6 , and CLN 8 , which encode novel transmembrane proteins . ^^^ The most obvious connection between PPT 1 , TPP 1 , CLN 3 , CLN 5 , CLN 6 , and CLN 8 is their subcellular localization . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
Unlike NCLs caused by mutations in CLN 1 , CLN 3 , CLN 5 , and CLN 8 , there is no major founder mutation in CLN 6 . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
Six genes have been identified that cause human NCL ( CLN 1 , CLN 2 , CLN 3 , CLN 5 , CLN 6 , CLN 8 ) , and approximately 150 mutations have been described . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
The carrier status of healthy relatives in families with known mutations in either CLN 1 , CLN 2 , CLN 3 or CLN 6 can be determined with certainty by mutation analysis . . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
Within the last decade , mutations that cause NCL have been found in six human genes ( CLN 1 , CLN 2 , CLN 3 , CLN 5 , CLN 6 and CLN 8 ) . ^^^ |
|
Interacting proteins: Q9NWW5 and Q13286 |
Pubmed |
SVM Score :0.0 |
Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis : CLN 3 , CLN 5 and CLN 6 . ^^^ |
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