Rabbit anti-Human ALDH18A1 Polyclonal Antibody | anti-ALDH18A1 antibody

ALDH18A1, ID (Delta-1-pyrroline-5-carboxylate Synthase, P5CS, Aldehyde Dehydrogenase Family 18 Member A1, GSAS, P5CS, PYCS) (FITC)

Cat. Num. AAA6462394

• Gene Names: ALDH18A1; GSAS; P5CS; PYCS; ADCL3; SPG9A; SPG9B; ARCL3A
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Immunoaffinity chromatography.
• Synonyms: ALDH18A1; Polyclonal Antibody; ID (Delta-1-pyrroline-5-carboxylate Synthase; P5CS; Aldehyde Dehydrogenase Family 18 Member A1; GSAS; PYCS) (FITC); anti-ALDH18A1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human ALDH18A1.
• Purity/Purification: Purified by Immunoaffinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Fluorescein Isothiocyanate (FITC).

• Applicable Applications for anti-ALDH18A1 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-1:500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide selected from the center region of human ALDH18A1 (KLH).
• Conjugate: FITC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: FITC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western blot analysis of ALDH18A1 Antibody (Center) in K562 cell line lysates (35ug/lane). ALDH18A1 (arrow) was detected using the purified Pab.)

Immunohistochemistry (IHC)

(Formalin-fixed and paraffin-embedded human brain tissue reacted with ALDH18A1 Antibody (Center), which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.)

Flow Cytometry (FC/FACS)

(ALDH18A1 Antibody (Center) flow cytometric analysis of k562 cells (bottom histogram) compared to a negative control cell (top histogram).FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.)

Product Categories/Family for anti-ALDH18A1 antibody

Antibodies; Enzymes; Synthase

References

1. Hu, C.A., et.al., Amino Acids 35(4), 665-672 (2008). 2. Bicknell, L.S., et.al., Eur. J. Hum. Genet. 16(10), 1176-1186 (2008).

NCBI and Uniprot Product Information

• NCBI GI #: 21361368
• NCBI GeneID: 5832
• NCBI Accession #: NP_002851.2; NP_001017423.1
• NCBI GenBank Nucleotide #: NM_002860.3
• UniProt Accession #: P54886; O95952; Q3KQU2; Q5T566; Q5T567; Q9UM72; B2R5Q4; B7Z350; B7Z5X8; B7ZLP1; D3DR44
• Molecular Weight: 87,089 Da
• NCBI Official Full Name: delta-1-pyrroline-5-carboxylate synthase isoform 1
• NCBI Official Synonym Full Names: aldehyde dehydrogenase 18 family member A1
• NCBI Official Symbol: ALDH18A1
• NCBI Official Synonym Symbols: GSAS; P5CS; PYCS; ADCL3; SPG9A; SPG9B; ARCL3A
• NCBI Protein Information: delta-1-pyrroline-5-carboxylate synthase
• UniProt Protein Name: Delta-1-pyrroline-5-carboxylate synthase
• UniProt Gene Name: ALDH18A1
• UniProt Synonym Gene Names: GSAS; P5CS; PYCS; P5CS; GK; GPR
• UniProt Entry Name: P5CS_HUMAN

NCBI Description

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 Description

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.

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