Literature summary for 2.7.4.21 extracted from

Yousaf, R.; Gu, C.; Ahmed, Z.M.; Khan, S.N.; Friedman, T.B.; Riazuddin, S.; Shears, S.B.; Riazuddin, S.
Mutations in diphosphoinositol-pentakisphosphate kinase PPIP5K2 are associated with hearing loss in human and mouse (2018), PLoS Genet., 14, e1007297 .

Search for more literature for 2.7.4.21

Application

Application	Comment	Organism
medicine	transition variant R837H segregates with DFNB100-associated hearing loss	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R837H	variant R837H segregates with DFNB100-associated hearing loss. Mutation reduces the phosphatase activity of PPIP5K2 and elevates its kinase activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O43314	cf. EC 2.7.4.24	-

Synonyms

Synonyms	Comment	Organism
PPIP5K2	-	Homo sapiens

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Release 2023.1 (January 2023)