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MGP005719

Record overview

MGPD IDMGP005719
Gene ID60496
SpeciesHomo sapiens (Human)
Gene Nameaminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Gene Symbol AASDHPPT
SynonymsLYS2; LYS5; CGI-80; AASD-PPT;
Alternate namesL-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; 4'-phosphopantetheinyl transferase; LYS5 ortholog; alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase;
Chromosome11
Map Location11q22
EC Number2.7.8.-
SummaryThe protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for AASDHPPT

Proteins

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Refseq ID:NP_056238
Protein GI:20357568
UniProt ID:Q9NRN7
mRNA ID:NM_015423
Length:309
RefSeq Status:
MVFPAKRFCLVPSMEGVRWAFSCGTWLPSRAEWLLAVRSIQPEEKERIGQFVFARDAKAAMAGRLMIRKLVAEKLNIPWNHIRLQRTAKGKPVLAKDSSN
PYPNFNFNISHQGDYAVLAAEPELQVGIDIMKTSFPGRGSIPEFFHIMKRKFTNKEWETIRSFKDEWTQLDMFYRNWALKESFIKAIGVGLGFELQRLEF
DLSPLNLDIGQVYKETRLFLDGEEEKEWAFEESKIDEHHFVAVALRKPDGSRHQDVPSQDDSKPTQRQFTILNFNDLMSSAVPMTPEDPSFWDCFCFTEE
IPIRNGTKS
 
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