Gene Symbol | PSAT1 |
Entrez Gene ID | 29968 |
Full Name | phosphoserine aminotransferase 1 |
Synonyms | EPIP,NLS2,PSA,PSAT,PSATD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]. |
Disorder MIM: | |
Disorder Html: | ?Phosphoserine aminotransferase deficiency, 610992 (3); Neu-Laxova syndrome 2, 616038 (3) |