アスパルトアシラーゼ
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/10/16 22:25:35」(JST)
[Wiki en表示]
| aspartoacylase (Canavan disease) |
| Identifiers |
| Symbol |
ASPA |
| Entrez |
443 |
| HUGO |
756 |
| OMIM |
608034 |
| RefSeq |
NM_000049 |
| UniProt |
P45381 |
| Other data |
| EC number |
3.5.1.15 |
| Locus |
Chr. 17 p13-ter |
| aspartoacylase (aminocyclase) 3 |
| Identifiers |
| Symbol |
ACY3 |
| Entrez |
91703 |
| HUGO |
24104 |
| RefSeq |
NM_080658 |
| UniProt |
Q96HD9 |
| Other data |
| Locus |
Chr. 11 q13 |
Aspartoacylase (EC 3.5.1.15, aminoacylase II, N-acetylaspartate amidohydrolase, acetyl-aspartic deaminase, acylase II) is a hydrolase enzyme with system name N-acyl-L-aspartate amidohydrolase.,[1][2] which breaks down N-acetylaspartate. A deficiency is associated with Canavan disease.This enzyme catalyses the following chemical reaction
- N-acyl-L-aspartate + H2O a carboxylate + L-aspartate
References[edit]
- ^ Birnbaum, S.M. (1955). "Aminoacylase. Amino acid aminoacylases I and II from hog kidney". Methods Enzymol. 2: 115–119.
- ^ Birnbaum, S.M., Levintow, L., Kingsley, R.B. and Greenstein, J.P. (1952). "Specificity of amino acid acylases". J. Biol. Chem. 194: 455–470. PMID 14927637.
External links[edit]
- aspartoacylase at the US National Library of Medicine Medical Subject Headings (MeSH)
|
Hydrolases: carbon-nitrogen non-peptide (EC 3.5)
|
|
3.5.1: Linear amides /
Amidohydrolases |
- Asparaginase
- Glutaminase
- Urease
- Biotinidase
- Aspartoacylase
- Ceramidase
- Aspartylglucosaminidase
- Fatty acid amide hydrolase
- Histone deacetylase
|
|
3.5.2: Cyclic amides/
Amidohydrolases |
- Barbiturase
- Beta-lactamase
|
|
3.5.3: Linear amidines/
Ureohydrolases |
- Arginase
- Agmatinase
- Protein-arginine deiminase
|
|
3.5.4: Cyclic amidines/
Aminohydrolases |
- Guanine deaminase
- Adenosine deaminase
- AMP deaminase
- Inosine monophosphate synthase
- DCMP deaminase
- GTP cyclohydrolase I
- Cytidine deaminase
- AICDA
- Activation-Induced (Cytidine) Deaminase
|
|
3.5.5: Nitriles/
Aminohydrolases |
|
|
| 3.5.99: Other |
- Riboflavinase
- Thiaminase II
|
|
- B
- enzm
- 1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
- 2.1
- 3.1
- 4.1
- 5.1
- 6.1-3
|
|
|
|
UpToDate Contents
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English Journal
- Short-Term Cuprizone Feeding Verifies N-Acetylaspartate Quantification as a Marker of Neurodegeneration.
- Krauspe BM1, Dreher W, Beyer C, Baumgartner W, Denecke B, Janssen K, Langhans CD, Clarner T, Kipp M.
- Journal of molecular neuroscience : MN.J Mol Neurosci.2014 Sep 5. [Epub ahead of print]
- Proton magnetic resonance spectroscopy (1H-MRS) is a quantitative MR imaging technique often used to complement conventional MR imaging with specific metabolic information. A key metabolite is the amino acid derivative N-Acetylaspartate (NAA) which is an accepted marker to measure the extent of neur
- PMID 25189319
- Brain ultrasound in Canavan disease.
- Drera B1, Poggiani C2.
- Journal of ultrasound.J Ultrasound.2014 Jun 21;17(3):215-7. doi: 10.1007/s40477-014-0108-3. eCollection 2014.
- in
English, GermanLa malattia di Canavan (MIM 271900), dovuta a mutazioni nel gene ASPA (MIM 608034), è una rara leucodistrofia a trasmissione autosomica recessiva. E’ caratterizzata dalla presenza di macrocefalia e scarso controllo del capo, pianto flebile, suzione poco valida, ipotonia e re
- Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
- Wijayasinghe YS1, Pavlovsky AG, Viola RE.
- Biochemistry.Biochemistry.2014 Aug 5;53(30):4970-8. doi: 10.1021/bi500719k. Epub 2014 Jul 16.
- Canavan disease (CD) is a fatal, childhood neurological disorder caused by mutations in the ASPA gene, leading to catalytic deficiencies in the aspartoacylase (ASPA) enzyme and impaired N-acetyl-l-aspartic acid metabolism in the brain. To study the possible structural defects triggered by these muta
- PMID 25003821
Japanese Journal
- Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease
- ZHANG Huiwen,LIU Xiaoqin,GU Xuefan
- Brain & development 32(10), 879-882, 2010-11-01
- NAID 10029560000
- 長期経過を追えた Canavan 病の日本人女性例
- Absence-Like and Tonic Seizures in Aspartoacylase/Attractin Double-Mutant Mice
- Gohma Hiroshi,Kuramoto Takashi,Matalon Reuben [他],SURENDRAN Sankar,TYRING Stephen,KITADA Kazuhiro,SASA Masashi,SERIKAWA Tadao
- Experimental Animals 56(2), 161-165, 2007
- The Spontaneously Epileptic Rat (SER), a double-mutant for tremor and zitter mutations, shows spontaneous occurrences of absence-like and tonic seizures. Several lines of evidence suggest that the com …
- NAID 130000068047
Related Links
- The official name of this gene is “aspartoacylase.” ASPA is the gene's official symbol. The ASPA gene is also known by other names, listed below. Read more about gene names and symbols on the About page.
- Aspartoacylase PRO_0000216871 Add BLAST Proteomic databases PaxDb i P45381. PRIDE i P45381. PTM databases PhosphoSite i P45381. Expression i Tissue specificity i Brain white matter, skeletal muscle, kidney Bgee i ...