Aryl sulfatase A.
| Aryl sulfatase A. | ||
|---|---|---|
|
||
| Monomer of the (489 aa) unit of aryl sulfatase A, according to PDB 1AUK | ||
| Properties of human protein | ||
| Mass / length primary structure | 489/486 amino acids (A / B + C) | |
| Secondary to quaternary structure | 2 * A or 2 * (B + C) = 2 * (426 + 60 aa); Octamer | |
| Cofactor | Ca ++ | |
| Precursor | Component A (489 aa) | |
| Identifier | ||
| Gene name | ARSA | |
| External IDs | ||
| Enzyme classification | ||
| EC, category | 3.1.6.8 , sulfatase | |
| Response type | Elimination of sulphate | |
| Substrate | Sulfatide + H 2 O | |
| Products | Cerebroside + sulfate | |
| Occurrence | ||
| Parent taxon | multicellular animals | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 410 | 11883 |
| Ensemble | ENSG00000100299 | ENSMUSG00000022620 |
| UniProt | P15289 | P50428 |
| Refseq (mRNA) | NM_000487 | NM_009713 |
| Refseq (protein) | NP_000478 | NP_033843 |
| Gene locus | Chr 22: 50.62 - 50.63 Mb | Chr 15: 89.47 - 89.48 Mb |
| PubMed search | 410 |
11883
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Aryl sulfatase A is the enzyme in animals that splits sulfate from sulfatides . The breakdown of these substances takes place in the lysosomes of the cells . In humans, the enzyme activity not present or too low, by mutations in the ARSA - gene can be triggered, it comes through the accumulation of sulfatide in the lysosomes to a metabolic disorder , the metachromatic leukodystrophy .
A special mutation in the ARSA gene that does not affect enzyme activity can be found in six to ten percent of all Europeans and is called pseudoarylsulfatase A deficiency . Heterozygotes with this allele and a deficiency allele also show metachromatic leukodystrophy.
Aryl sulfatase A is a dimer of the entire 489 amino acid chain, or a dimer of the complex of the two fragments that are 426 and 60 amino acids long. The formylation of cysteine-69 to ketoalanine (a post-translational modification ) is critical for calcium cofactor capture and enzyme activity. A defect in this process affects multiple sulfatases and leads to multiple sulfatase deficiencies .
literature
- E. Carmona, W. Weerachatyanukul et al. a .: Binding of aryl sulfatase A to mouse sperm inhibits gamete interaction and induces the acrosome reaction. In: Biology of reproduction. Volume 66, Number 6, June 2002, pp. 1820-1827, ISSN 0006-3363 . PMID 12021068 .
- V. Gieselmann, I. Krägeloh-Mann: Metachromatic leukodystrophy – an update. In: Neuropediatrics. Volume 41, Number 1, February 2010, pp. 1-6, ISSN 1439-1899 . doi: 10.1055 / s-0030-1253412 . PMID 20571983 . (Review).
Individual evidence
- ↑ EC 3.1.6.8
- ↑ a b UniProt P15289
- ↑ orphanet: Pseudoarylsulfatase A deficiency (seen 2011-Oct-21)
- ↑ multiple sulfatase deficiency. In: Online Mendelian Inheritance in Man . (English)