ALDH18A1 Antibody (PACO07679)
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주문- SKU:
- PACO07679
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
Antibody Name: | ALDH18A1 Antibody (PACO07679) |
Antibody SKU: | PACO07679 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse, Rat |
Immunogen: | Human ALDH18A1 |
Form: | Liquid |
Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
Purification Method: | Antigen Affinity purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Synonyms: | aldehyde dehydrogenase 18 family, member A1;ALDH18A1;GSAS;MGC117316;P5CS;PYCS ; |
UniProt Protein Function: | ALDH18A1: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A). A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Oxidoreductase; EC 2.7.2.11; Amino Acid Metabolism - arginine and proline; EC 1.2.1.41; Mitochondrial; Kinase, other Chromosomal Location of Human Ortholog: 10q24.3 Cellular Component: mitochondrion; cytoplasm; mitochondrial inner membrane Molecular Function:glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; ATP binding Biological Process: citrulline biosynthetic process; glutamate metabolic process; proline biosynthetic process; ornithine biosynthetic process; amino acid biosynthetic process; phosphorylation Disease: Cutis Laxa, Autosomal Recessive, Type Iiia |
NCBI Summary: | This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] |
UniProt Code: | P54886 |
NCBI GenInfo Identifier: | 6226882 |
NCBI Gene ID: | 5832 |
NCBI Accession: | P54886.2 |
UniProt Related Accession: | P54886 |
Molecular Weight: | Observed: 87 kDaPredicted: 88 kDa |
NCBI Full Name: | Delta-1-pyrroline-5-carboxylate synthase |
NCBI Synonym Full Names: | aldehyde dehydrogenase 18 family member A1 |
NCBI Official Symbol: | ALDH18A1 |
NCBI Official Synonym Symbols: | GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A |
NCBI Protein Information: | delta-1-pyrroline-5-carboxylate synthase |
UniProt Protein Name: | Delta-1-pyrroline-5-carboxylate synthase |
UniProt Synonym Protein Names: | Aldehyde dehydrogenase family 18 member A1Including the following 2 domains:Glutamate 5-kinase (EC:2.7.2.11); GKAlternative name(s):Gamma-glutamyl kinase |
Protein Family: | Delta-1-pyrroline-5-carboxylate synthase |
UniProt Gene Name: | ALDH18A1 |
UniProt Entry Name: | P5CS_HUMAN |