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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. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  硫酸化是内生的(脂类,蛋白质和碳水化合物)和外源性(异生素和药物)的化合物的一个共同的变形例。在哺乳动物中,硫酸盐源是3‘-phosphoadenosine -5‘-磷酸硫酸(PAPS),从ATP和无机硫酸盐创建。由不同的基因编码的两种不同亚型的组织合成PAPS。该基因编码在两个PAPS合成酶之一。这种基因缺陷导致巴基斯坦类型spondyloepimetaphyseal发育不良。两个编码不同同种型的可变剪接转录物变体已被用于这个基因说明。 [由RefSeq的,2008年7月提供]
PAPSS2基因(以及对应的蛋白质)的细胞分布位置:
PAPSS2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Spondyloepimetaphyseal Dysplasia, Pakistani Type | 0.560271442 | 3 | 10 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Spondyloepiphyseal dysplasia tarda, Toledo type | 0.12 | 0 | 0 | ORPHANET |
| Brachyolmia, recessive Hobaek type | 0.12 | 0 | 0 | ORPHANET |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Anovulation | 0.000271442 | 1 | 0 | BeFree |
| Dwarfism | 0.000271442 | 1 | 0 | BeFree |
| Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
| Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
| Osteochondrodysplasias | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Diseases | 0.000271442 | 1 | 0 | BeFree |
| Polycystic Ovary Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Diastrophic dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Chondrodysplasia | 0.000271442 | 1 | 0 | BeFree |
| Osteoarthritis, Knee | 0.000271442 | 1 | 0 | BeFree |
| Skeletal dysplasia | 0.000271442 | 1 | 0 | BeFree |
| Brachyolmia | 0.000271442 | 1 | 0 | BeFree |
| Shortened trunk | 0.000271442 | 1 | 0 | BeFree |
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