| Type | Description |
|---|---|
| Definition | aspartoacylase |
| Date | Results | Publications |
|---|---|---|
| 2020-06-20 11:45:00 | Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase | 30431265 |
| 2019-06-15 10:10:00 | In one case, the homozygous pathogenic variant NM_000049.2:c.914C>A;p.Ala305Glu, which is previously reported in ClinVar, in the gene was identified causing Canavan disease. In the second case, the homozygous novel variant NM_000487.5:c.256C>G;p.Arg86Gly in the gene ARSA was identified causing metachromatic leukodystrophy. | 30834272 |
| 2014-10-18 13:33:00 | report of 2 Egyptian sibling patients suspected of Canavan disease (CD); study revealed homozygosity for substitution T530C (Ile177Thr) in exon 4 of the gene in both sibs; substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics | 24036223 |
| 2014-09-27 12:46:00 | Four missense mutations associated with Canavan disease are structurally characterized. | 25003821 |
| 2014-05-31 11:21:00 | Definitive evidence is presented to show that the recombinantly-expressed human aspartoacylase is not a glycoprotein. | 24632142 |
| Type | IDs |
|---|---|
| Synonymous | ACY2, ASP |
| Gene |
UniProtKB-ID:
ACY2_HUMAN,
Q6FH48_HUMAN
UniprotKB:
P45381,
Q6FH48
UniParc:
UPI00000012D1
EMBL:
CH471108,
S67156,
BC029128,
CR541908,
AK312901
Ensembl:
ENSG00000108381
KO:
hsa:443
|
| Nucleutide sequences |
EMBL-CDS:
AAH29128.1,
AAB29190.1,
BAG35747.1,
EAW90506.1,
CAG46706.1
Gene_ORFName:
hCG_32633
Ensembl_TRS:
ENST00000456349,
ENST00000263080
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000263080,
ENSP00000409976
RefSeq:
XP_016880150.1,
XP_024306532.1,
NP_000040.1,
NP_001121557.1
|
| Others |
UniRef100:
UniRef100_P45381
UniRef90:
UniRef90_P45381
UniRef50:
UniRef50_P45381
UniGene:
Hs.171142
CCDS:
CCDS11028.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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