| Type | Description |
|---|---|
| Definition | aldehyde dehydrogenase 18 family member A1 |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 10:44:00 | Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. | 29915212 |
| 2018-01-20 10:05:00 | 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. | 28228640 |
| 2017-12-02 11:18:00 | 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. | 27989597 |
| 2015-12-12 10:57:00 | Recurrent Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. | 26320891 |
| 2015-10-17 12:00:00 | autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment | 26026163 |
| Type | IDs |
|---|---|
| Synonymous | ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B |
| Gene |
UniProtKB-ID:
P5CS_HUMAN
UniprotKB:
P54886
UniParc:
UPI000002B056,
UPI0000131056
EMBL:
AK295487,
BC117240,
AK299557,
AK312271,
U68758,
AL356632,
BC143930,
BC117242,
CH471066,
U76542,
BC106054,
X94453
Ensembl:
ENSG00000059573
KO:
hsa:5832
|
| Nucleutide sequences |
EMBL-CDS:
AAI43931.1,
BAH12086.1,
BAG35201.1,
EAW49996.1,
EAW49997.1,
EAW49994.1,
AAI17241.1,
AAI06055.1,
CAA64224.1,
EAW49995.1,
AAD17454.1,
AAI17243.1,
AAD00169.1,
BAH13064.1
Ensembl_TRS:
ENST00000371224,
ENST00000371221
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000360265,
ENSP00000360268
RefSeq:
NP_002851.2,
NP_001310348.1,
XP_024303864.1,
NP_001310346.1,
NP_001310342.1,
XP_024303862.1,
NP_001310341.1,
NP_001017423.1,
NP_001310343.1,
XP_024303863.1,
NP_001310347.1,
NP_001310345.1,
XP_024303865.1,
NP_001310344.1
|
| Others |
UniRef100:
UniRef100_P54886
UniRef90:
UniRef90_P54886
UniRef50:
UniRef50_P54886
UniGene:
Hs.500645
CCDS:
CCDS31257.1,
CCDS7443.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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