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PUS7

Official Full Name
pseudouridine synthase 7
Organism
Homo sapiens
GeneID
54517
Background
Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Feb 2025]
Synonyms
IDDABS;

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