Literature summary for 3.4.24.81 extracted from

Kim, M.; Suh, J.; Romano, D.; Truong, M.H.; Mullin, K.; Hooli, B.; Norton, D.; Tesco, G.; Elliott, K.; Wagner, S.L.; Moir, R.D.; Becker, K.D.; Tanzi, R.E.
Potential late-onset Alzheimers disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity (2009), Hum. Mol. Genet., 18, 3987-3996.

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Cloned(Commentary)

Cloned (Comment)	Organism
expression in CHO cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
Q170H	Alzheimers disease-associated non-synonymous mutations, Q170H and R181G. These mutations are found in 11 of 16 affected individuals (average onset age 69.5 years) from seven late-onset Alzheimers disease families. Each mutation is also found in one unaffected subject implying incomplete penetrance. Functionally, both mutations significantly attenuate alpha-secretase activity of ADAM10 (more than 70% decrease), and elevate Abeta levels (1.53.5-fold) in cell-based studies	Homo sapiens
R181G	Alzheimers disease-associated non-synonymous mutations, Q170H and R181G. These mutations are found in 11 of 16 affected individuals (average onset age 69.5 years) from seven late-onset Alzheimers disease families. Each mutation is also found in one unaffected subject implying incomplete penetrance. Functionally, both mutations significantly attenuate alpha-secretase activity of ADAM10 (more than 70% decrease), and elevate Abeta levels (1.5-3.5fold) in cell-based studies	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
ADAM10	-	Homo sapiens

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Release 2023.1 (January 2023)