Name: Anti-ALDH18A1 Antibody (CAB12247)
Brand: Metabolism Antibodies 1
SKU: CAB12247
Availability: OutOfStock

Antibody Name:	Anti-ALDH18A1 Antibody
Antibody SKU:	CAB12247
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 1-240 of human ALDH18A1 (NP_002851.2).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse, Rat
Positive Samples:	U-87MG, Mouse testis, Rat brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human ALDH18A1 (NP_002851.2).
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:	MLSQ VYRC GFQP FNQH LLPW VKCT TVFR SHCI QPSV IRHV RSWS NIPF ITVP LSRT HGKS FAHR SELK HAKR IVVK LGSA VVTR GDEC GLAL GRLA SIVE QVSV LQNQ GREM MLVT SGAV AFGK QRLR HEIL LSQS VRQA LHSG QNQL KEMA IPVL EARA CAAA GQSG LMAL YEAM FTQY SICA AQIL VTNL DFHD EQKR RNLN GTLH ELLR MNIV PIVN TNDA VVPP AEPN SDLQ GVNV
Gene ID:	5832
Uniprot:	P54886
Cellular Location:	Mitochondrion inner membrane
Calculated MW:	87kDa
Observed MW:	87kDa

Synonyms:

ALDH18A1, ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B

Background:

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.

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

Western blot analysis of extracts of various cell lines, using ALDH18A1 antibody (CAB12247) at 1:3000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.

Antibodies

Anti-ALDH18A1 Antibody (CAB12114)

ALDH18A1 Antibody (PACO07679)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)