Metabolism Antibodies 1
Anti-GCH1 Antibody (CAB10616)
- SKU:
- CAB10616
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Description
Antibody Name: | Anti-GCH1 Antibody |
Antibody SKU: | CAB10616 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human GCH1 (NP_000152.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | THP-1, Mouse liver, Mouse brain, Mouse spleen, Rat lung, Rat liver |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human GCH1 (NP_000152.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MEKG PVRA PAEK PRGA RCSN GFPE RDPP RPGP SRPA EKPP RPEA KSAQ PADG WKGE RPRS EEDN ELNL PNLA AAYS SILS SLGE NPQR QGLL KTPW RAAS AMQF FTKG YQET ISDV LNDA IFDE DHDE MVIV KDID MFSM CEHH LVPF VGKV HIGY LPNK QVLG LSKL ARIV EIYS RRLQ VQER LTKQ IAVA ITEA LRPA GVGV VVEA THMC MVMR GVQK MNSK TVTS TMLG VFRE DPKT REEF LTLI RS |
Gene ID: | 2643 |
Uniprot: | P30793 |
Cellular Location: | Cytoplasm, Nucleus |
Calculated MW: | 23kDa/25kDa/27kDa |
Observed MW: | 28KDa |
Synonyms: | GCH1, DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B |
Background: | This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7, 8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. |
NCBI Summary: | This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008] |
UniProt Code: | P30793 |
NCBI GenInfo Identifier: | 399536 |
NCBI Gene ID: | 2643 |
NCBI Accession: | P30793.1 |
UniProt Related Accession: | P30793 |
Molecular Weight: | 27kDa |
NCBI Full Name: | GTP cyclohydrolase 1 |
NCBI Synonym Full Names: | GTP cyclohydrolase 1 |
NCBI Official Symbol: | GCH1 |
NCBI Official Synonym Symbols: | GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1 |
NCBI Protein Information: | GTP cyclohydrolase 1 |
UniProt Protein Name: | GTP cyclohydrolase 1 |
UniProt Synonym Protein Names: | GTP cyclohydrolase I |
Protein Family: | GTP cyclohydrolase |
UniProt Gene Name: | GCH1 |
UniProt Entry Name: | GCH1_HUMAN |
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