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- ATPSK2
- 3'-phosphoadenosine 5'-phosphosulfate synthase 2
- 3-prime-phosphoadenosine 5-prime-phosphosulfate
synthase 2
- Bifunctional 3'-phosphoadenosine 5'-phosphosulfate
synthethase 2 (PAPS synthethase 2) (PAPSS 2)
(Sulfurylase kinase 2) (SK2) (SK 2) [Includes: Sulfate adenylyltransferase
(EC 2.7.7.4) (Sulfate
adenylate transferase) (SAT) (ATP-sulfurylase); Adenylyl-sulfate kinase
(EC 2.7.1.25)
(Adenylylsulfate 3'-phosphotransferase) (APS kinase)
(Adenosine-5'-phosphosulfate
3'-phosphotransferase) (3'- phosphoadenosine-5'-phosphosulfate synthetase)].
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- Sulfation is a common modification of endogenous (lipids, proteins,
and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In
mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS),
created from ATP and inorganic sulfate. Two different tissue isoforms
encoded by different genes synthesize PAPS. This gene encodes one of the
two PAPS synthetases. Defects in this gene cause the Pakistani type of
spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript
variants that encode different isoforms have been described for this gene
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- Location: 10q23-q24
- Orientation: plus strand
- Size: 86546 bp
- 13 exons
- DNA sequence (Human):
NC_000010.
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- Mutations and SNPs
(According to
HGMD and
SNP)
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