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[1]
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SEQUENCE FROM NUCLEIC ACID.
MEDLINE=20179699; PubMed=10713460; [NCBI, ExPASy, EBI, Israel, Japan]
Cho H.M.,
Jun D.Y.,
Bae M.A.,
Ahn J.D.,
Kim Y.H.;
"Nucleotide sequence and differential expression of the human 3-phosphoglycerate dehydrogenase gene.";
Gene 245:193-201(2000).
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[2]
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SEQUENCE FROM NUCLEIC ACID, AND VARIANTS PHGDH DEFICIENCY MET-425 AND MET-490.
MEDLINE=20530221; PubMed=11055895; [NCBI, ExPASy, EBI, Israel, Japan]
Klomp L.W.J.,
de Koning T.J.,
Malingre H.E.M.,
van Beurden E.A.C.M.,
Brink M.,
Opdam F.L.,
Duran M.,
Jaeken J.,
Pineda M.,
van Maldergem L.,
Poll-The B.T.,
van den Berg I.E.T.,
Berger R.;
"Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency -- a neurometabolic disorder associated with reduced L-serine biosynthesis.";
Am. J. Hum. Genet. 67:1389-1399(2000).
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[3]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Brain, Lung, and Muscle;
Strausberg R.;
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
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- CATALYTIC ACTIVITY: 3-phosphoglycerate + NAD+ = 3-phosphohydroxypyruvate + NADH.
- PATHWAY: Serine biosynthesis; first step.
- SUBUNIT: Homotetramer (By similarity).
- DISEASE: Defects in PHGDH are the cause of a deficiency characterized by congenital microcephaly, psychomotor retardation, and seizures.
- SIMILARITY: BELONGS TO THE D-ISOMER SPECIFIC 2-HYDROXYACID DEHYDROGENASES FAMILY.
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This SWISS-PROT entry is copyright. It is produced through a collaboration
between the Swiss Institute of Bioinformatics and the EMBL outstation -
the European Bioinformatics Institute. There are no restrictions on its
use by non-profit institutions as long as its content is in no way
modified and this statement is not removed. Usage by and for commercial
entities requires a license agreement (See http://www.isb-sib.ch/announce/
or send an email to license@isb-sib.ch).
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10 20 30 40 50 60
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MAFANLRKVL ISDSLDPCCR KILQDGGLQV VEKQNLSKEE LIAELQDCEG LIVRSATKVT
70 80 90 100 110 120
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ADVINAAEKL QVVGRAGTGV DNVDLEAATR KGILVMNTPN GNSLSAAELT CGMIMCLARQ
130 140 150 160 170 180
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IPQATASMKD GKWERKKFMG TELNGKTLGI LGLGRIGREV ATRMQSFGMK TIGYDPIISP
190 200 210 220 230 240
| | | | | |
EVSASFGVQQ LPLEEIWPLC DFITVHTPLL PSTTGLLNDN TFAQCKKGVR VVNCARGGIV
250 260 270 280 290 300
| | | | | |
DEGALLRALQ SGQCAGAALD VFTEEPPRDR ALVDHENVIS CPHLGASTKE AQSRCGEEIA
310 320 330 340 350 360
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VQFVDMVKGK SLTGVVNAQA LTSAFSPHTK PWIGLAEALG TLMRAWAGSP KGTIQVITQG
370 380 390 400 410 420
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TSLKNAGNCL SPAVIVGLLK EASKQADVNL VNAKLLVKEA GLNVTTSHSP AAPGEQGFGE
430 440 450 460 470 480
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CLLAVALAGA PYQAVGLVQG TTPVLQGLNG AVFRPEVPLR RDLPLLLFRT QTSDPAMLPT
490 500 510 520 530
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MIGLLAEAGV RLLSYQTSLV SDGETWHVMG ISSLLPSLEA WKQHVTEAFQ FHF
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O43175 in FASTA format |
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