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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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