Product Details

Purity

Greater than 85% as determined by SDS-PAGE.

Activity

Not Test

Target Names

ALDH18A1

Uniprot No.

P54886

Research Area

Metabolism

Alternative Names

(P5CS)(Aldehyde dehydrogenase family 18 member A1)(GK)(Gamma-glutamyl kinase)(GPR)(Glutamate-5-semialdehyde dehydrogenase)(Glutamyl-gamma-semialdehyde dehydrogenase)

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

1-795aa

Target Protein Sequence

MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKSFAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTKSRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAAPLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTREEVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRLVRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSLKYLHENLPIPQRNTN
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.

Mol. Weight

87.3 kDa

Protein Length

Full Length

Tag Info

Tag-Free

Form

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

3-7 business days

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.

Datasheet & COA

Please contact us to get it.

Target Background

Function

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.

Gene References into Functions

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. PMID: 29915212
This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families. PMID: 28228640
ALDH18A1 gene during vertebrate and invertebrate evolution and a proposal for generating the bifunctional vertebrate and invertebrate ALDH18A1 gene from a bacterial operon (proBA) encoding glutamyl kinase and glutamyl phosphate reductase. PMID: 27989597
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. PMID: 26320891
autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment PMID: 26026163
A frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, respectively, in a homozygous state in both patients, was identified. PMID: 24913064
expansion of the phenotypic spectrum associated with mutations in ALDH18A1 PMID: 21739576
ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease. PMID: 20946940
analysis of function and regulation of Delta1-pyrroline-5-carboxylate synthase PMID: 18401542
These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function. PMID: 18478038

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Involvement in disease

Cutis laxa, autosomal recessive, 3A (ARCL3A); Cutis laxa, autosomal dominant, 3 (ADCL3); Spastic paraplegia 9A, autosomal dominant (SPG9A); Spastic paraplegia 9B, autosomal recessive (SPG9B)

Subcellular Location

Mitochondrion inner membrane.

Protein Families

Glutamate 5-kinase family; Gamma-glutamyl phosphate reductase family

Database Links

HGNC: 9722

OMIM: 138250

KEGG: hsa:5832

STRING: 9606.ENSP00000360268

UniGene: Hs.500645

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Code	CSB-EP001564HUe1
MSDS	MSDS
Size	$472
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Recombinant Human Delta-1-pyrroline-5-carboxylate synthase (ALDH18A1)

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