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PSAT1 Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the ''PSAT1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=29968 )〕 The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and ''Drosophila''. Alternative splicing of this gene results in two transcript variants encoding different isoforms.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=29968 )〕 == Clinical significance ==
Homozygous or compound heterozygous mutations in ''PSAT1'' cause Neu-Laxova syndrome and phosphoserine aminotransferase deficiency.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「PSAT1」の詳細全文を読む
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