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Aliases for ALDH18A1 Gene

Aliases for ALDH18A1 Gene

  • Aldehyde Dehydrogenase 18 Family Member A1 2 3 5
  • Pyrroline-5-Carboxylate Synthetase (Glutamate Gamma-Semialdehyde Synthetase) 2 3
  • Aldehyde Dehydrogenase Family 18 Member A1 3 4
  • Spastic Paraplegia 9 (Autosomal Dominant) 2 3
  • GSAS 3 4
  • PYCS 3 4
  • P5CS 3 4
  • Aldehyde Dehydrogenase 18 Family, Member A1 2
  • Delta-1-Pyrroline-5-Carboxylate Synthetase 3
  • Delta-1-Pyrroline-5-Carboxylate Synthase 3
  • Delta1-Pyrroline-5-Carboxlate Synthetase 3
  • EC 2.1.2.11 61
  • EC 1.2.1.41 61
  • EC 2.3.3.13 61
  • ARCL3A 3
  • ADCL3 3
  • SPG9A 3
  • SPG9B 3
  • SPG9 3

External Ids for ALDH18A1 Gene

Previous HGNC Symbols for ALDH18A1 Gene

  • GSAS
  • PYCS
  • SPG9

Previous GeneCards Identifiers for ALDH18A1 Gene

  • GC10M097355
  • GC10M090993

Summaries for ALDH18A1 Gene

Entrez Gene Summary for ALDH18A1 Gene

  • 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]

GeneCards Summary for ALDH18A1 Gene

ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH18A1 include Spastic Paraplegia 9A, Autosomal Dominant and Spastic Paraplegia 9B, Autosomal Recessive. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Viral mRNA Translation. GO annotations related to this gene include poly(A) RNA binding and NADP binding.

UniProtKB/Swiss-Prot for ALDH18A1 Gene

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

Gene Wiki entry for ALDH18A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH18A1 Gene

Genomics for ALDH18A1 Gene

Regulatory Elements for ALDH18A1 Gene

Enhancers for ALDH18A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G095634 1.1 ENCODE dbSUPER 22.8 +21.1 21084 3.3 ELF3 ATF1 ZFP64 ARID4B DMAP1 RARA GATA4 CREM MIXL1 EGR2 ALDH18A1 ENTPD1 TCTN3 CC2D2B PIR60482
GH10G095654 1.4 ENCODE dbSUPER 10.9 +0.9 867 3.0 HDGF HNRNPUL1 PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ALDH18A1 ENTPD1 TCTN3 PIR60482
GH10G096579 1.5 Ensembl ENCODE dbSUPER 10.1 -924.2 -924187 2.7 FEZF1 GLI4 ZNF2 ZNF121 ZNF416 KLF7 ZNF548 ZNF263 ZNF202 SP3 NPM1P26 LCOR MIR607 EXOSC1 ALDH18A1 LOC105378443
GH10G095644 1.2 ENCODE dbSUPER 9.2 +10.7 10657 4.0 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ZNF2 TCF12 ZNF121 ENTPD1 TCTN3 ALDH18A1 PDLIM1 PIR60482
GH10G095612 1 ENCODE dbSUPER 10.4 +42.3 42314 4.9 BCOR PAF1 CTCF ESRRA FOXA2 ZMYM3 CEBPB MAX ZKSCAN1 ZNF664 ALDH18A1 TCTN3 ENTPD1 ENTPD1-AS1 PIR60482 RPS3AP36
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALDH18A1 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH18A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031978 510 1801 HNRNPUL1 PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for ALDH18A1 Gene

Chromosome:
10
Start:
95,605,929 bp from pter
End:
95,656,810 bp from pter
Size:
50,882 bases
Orientation:
Minus strand

Genomic View for ALDH18A1 Gene

Genes around ALDH18A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH18A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH18A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH18A1 Gene

Proteins for ALDH18A1 Gene

  • Protein details for ALDH18A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54886-P5CS_HUMAN
    Recommended name:
    Delta-1-pyrroline-5-carboxylate synthase
    Protein Accession:
    P54886
    Secondary Accessions:
    • B2R5Q4
    • B7Z350
    • B7Z5X8
    • B7ZLP1
    • D3DR44
    • O95952
    • Q3KQU2
    • Q5T566
    • Q5T567
    • Q9UM72

    Protein attributes for ALDH18A1 Gene

    Size:
    795 amino acids
    Molecular mass:
    87302 Da
    Quaternary structure:
    • Homohexamer or homotetramer.
    SequenceCaution:
    • Sequence=BAH12086.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH13064.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALDH18A1 Gene

    Alternative splice isoforms for ALDH18A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH18A1 Gene

Selected DME Specific Peptides for ALDH18A1 Gene

P54886:
  • GIPVMGH
  • DLIIPRG
  • RGPVGLEGL
  • CNALETLL
  • FDQIIDM
  • GAEVGIST
  • HARGPVG
  • VIFESRP
  • STRFSDG
  • LKGGKEA

Post-translational modifications for ALDH18A1 Gene

  • Ubiquitination at Lys662 and posLast=761761
  • Modification sites at PhosphoSitePlus

Domains & Families for ALDH18A1 Gene

Gene Families for ALDH18A1 Gene

Suggested Antigen Peptide Sequences for ALDH18A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54886

UniProtKB/Swiss-Prot:

P5CS_HUMAN :
  • In the N-terminal section; belongs to the glutamate 5-kinase family.
Family:
  • In the N-terminal section; belongs to the glutamate 5-kinase family.
  • In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.
genes like me logo Genes that share domains with ALDH18A1: view

Function for ALDH18A1 Gene

Molecular function for ALDH18A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-glutamate = ADP + L-glutamate 5-phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamate 5-semialdehyde + phosphate + NADP(+) = L-glutamyl 5-phosphate + NADPH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Isoform Short: Inhibited by L-ornithine with a Ki of approximately 0.25 mm. Isoform Long: Insensitive to ornithine inhibition. This is due to the two amino acid insert which abolishes feedback inhibition of P5CS activity by L-ornithine.
UniProtKB/Swiss-Prot Function:
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.

Enzyme Numbers (IUBMB) for ALDH18A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003824 catalytic activity IEA --
GO:0004349 glutamate 5-kinase activity IMP 26297558
GO:0004350 glutamate-5-semialdehyde dehydrogenase activity IMP 26297558
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ALDH18A1: view
genes like me logo Genes that share phenotypes with ALDH18A1: view

Human Phenotype Ontology for ALDH18A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALDH18A1 Gene

Localization for ALDH18A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH18A1 Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH18A1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 1

Gene Ontology (GO) - Cellular Components for ALDH18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA 26297558
GO:0005743 mitochondrial inner membrane TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ALDH18A1: view

Pathways & Interactions for ALDH18A1 Gene

genes like me logo Genes that share pathways with ALDH18A1: view

UniProtKB/Swiss-Prot P54886-P5CS_HUMAN

  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2.
  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2.

Gene Ontology (GO) - Biological Process for ALDH18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006536 glutamate metabolic process IMP 11092761
GO:0006561 proline biosynthetic process IMP,TAS 11092761
GO:0006592 ornithine biosynthetic process IMP 11092761
GO:0008152 metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with ALDH18A1: view

No data available for SIGNOR curated interactions for ALDH18A1 Gene

Drugs & Compounds for ALDH18A1 Gene

(9) Drugs for ALDH18A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 61
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0
Ornithine Nutra 71

(11) Additional Compounds for ALDH18A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-Glutamic acid 5-phosphate
  • L-gamma-Glutamyl-5-P
  • L-gamma-Glutamyl-5-phosphate
  • L-Glutamate 5-phosphate
  • L-Glutamate-5-phosphate
  • L-Glutamic acid 5-phosphate
13254-53-0
L-Glutamic gamma-semialdehyde
  • Glutamate-semialdehyde
  • Glutamic gamma-semialdehyde
  • L-Glutamate 5-semialdehyde
  • L-Glutamate-5-semialdehyde
  • L-Glutamate-gamma-semialdehyde
496-92-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with ALDH18A1: view

Transcripts for ALDH18A1 Gene

Unigene Clusters for ALDH18A1 Gene

Aldehyde dehydrogenase 18 family, member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH18A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: - - - -
SP6: - -
SP7:
SP8:

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ALDH18A1 Gene

GeneLoc Exon Structure for
ALDH18A1
ECgene alternative splicing isoforms for
ALDH18A1

Expression for ALDH18A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH18A1 Gene

Protein differential expression in normal tissues from HIPED for ALDH18A1 Gene

This gene is overexpressed in Salivary gland (17.7) and Nasal epithelium (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDH18A1 Gene



Protein tissue co-expression partners for ALDH18A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH18A1 Gene:

ALDH18A1

SOURCE GeneReport for Unigene cluster for ALDH18A1 Gene:

Hs.500645

Evidence on tissue expression from TISSUES for ALDH18A1 Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Liver(4.3)
  • Kidney(4.2)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH18A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
Thorax:
  • aorta
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ALDH18A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALDH18A1 Gene

Orthologs for ALDH18A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH18A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH18A1 34 35
  • 99.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ALDH18A1 34 35
  • 91.66 (n)
cow
(Bos Taurus)
Mammalia ALDH18A1 34 35
  • 91.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ALDH18A1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh18a1 34 16 35
  • 87.89 (n)
rat
(Rattus norvegicus)
Mammalia Aldh18a1 34
  • 87.77 (n)
chicken
(Gallus gallus)
Aves ALDH18A1 34 35
  • 80.6 (n)
lizard
(Anolis carolinensis)
Reptilia ALDH18A1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh18a1 34
  • 78.09 (n)
Str.6782 34
zebrafish
(Danio rerio)
Actinopterygii aldh18a1 34 35
  • 74.67 (n)
pycs 34
fruit fly
(Drosophila melanogaster)
Insecta CG7470 34 35
  • 59.41 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002518 34
  • 56.64 (n)
worm
(Caenorhabditis elegans)
Secernentea alh-13 34 35
  • 56.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRO2 35 37
  • 40 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons P5CS2 34
  • 52.58 (n)
soybean
(Glycine max)
eudicotyledons Gma.5583 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.109 34
rice
(Oryza sativa)
Liliopsida Os05g0455500 34
  • 52.97 (n)
Species where no ortholog for ALDH18A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH18A1 Gene

ENSEMBL:
Gene Tree for ALDH18A1 (if available)
TreeFam:
Gene Tree for ALDH18A1 (if available)

Paralogs for ALDH18A1 Gene

No data available for Paralogs for ALDH18A1 Gene

Variants for ALDH18A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH18A1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121434582 Pathogenic, Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] 95,643,044(-) GACCC(A/G/T)AGGGG intron-variant, reference, missense
rs121434583 Pathogenic, Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] 95,606,800(-) ATCTT(C/T)ATGAG reference, missense
rs2275272 Likely benign, Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] 95,628,405(+) ACTTG(A/G)TTCCA reference, missense
rs752669339 Pathogenic, Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] 95,610,260(+) ACTGT(C/G)TACGT reference, missense
rs768323248 Pathogenic, Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] 95,637,357(+) CATGG(C/T)GCAAG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALDH18A1 Gene

Variant ID Type Subtype PubMed ID
esv3624282 CNV loss 21293372
esv3624283 CNV loss 21293372
nsv1110852 OTHER inversion 24896259
nsv1113334 CNV deletion 24896259
nsv1145476 CNV deletion 24896259
nsv526180 CNV gain 19592680

Variation tolerance for ALDH18A1 Gene

Residual Variation Intolerance Score: 7.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH18A1 Gene

Human Gene Mutation Database (HGMD)
ALDH18A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH18A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH18A1 Gene

Disorders for ALDH18A1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ALDH18A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 9a, autosomal dominant
  • hereditary spastic paraplegia 9a
spastic paraplegia 9b, autosomal recessive
  • hereditary spastic paraplegia 9b
cutis laxa, autosomal recessive, type iiia
  • de barsy syndrome
cutis laxa, autosomal dominant 3
  • cutis laxa, autosomal dominant, 3
de barsy syndrome
  • corneal clouding, cutis laxa and mental retardation
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

P5CS_HUMAN
  • Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]: A form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation. {ECO:0000269 PubMed:26320891}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]: 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. {ECO:0000269 PubMed:11092761, ECO:0000269 PubMed:18478038, ECO:0000269 PubMed:22170564, ECO:0000269 PubMed:24767728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency. {ECO:0000269 PubMed:26026163, ECO:0000269 PubMed:26297558}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients. {ECO:0000269 PubMed:26026163}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALDH18A1

Genetic Association Database (GAD)
ALDH18A1
Human Genome Epidemiology (HuGE) Navigator
ALDH18A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH18A1
genes like me logo Genes that share disorders with ALDH18A1: view

No data available for Genatlas for ALDH18A1 Gene

Publications for ALDH18A1 Gene

  1. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. (PMID: 26297558) Panza E. … Seri M. (Brain 2016) 2 3 4 64
  2. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5- carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. (PMID: 18478038) Bicknell L.S. … Robertson S.P. (Eur. J. Hum. Genet. 2008) 3 4 22 64
  3. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. (PMID: 11092761) Baumgartner M.R. … Valle D. (Hum. Mol. Genet. 2000) 3 4 22 64
  4. Molecular enzymology of mammalian delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. (PMID: 10037775) Hu C.A. … Valle D. (J. Biol. Chem. 1999) 3 4 22 64
  5. Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. (PMID: 8761662) Aral B. … Kamoun P. (C. R. Acad. Sci. III, Sci. Vie 1996) 3 4 22 64

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