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This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基??因编码含有在其C-末端区域在其N-末端区域phosphoribosylaminoimidazole羧化酶活性和phosphoribosylaminoimidazole succinocarboxamide合成的双功能酶。它催化步骤6和嘌呤生物合成的7。的基因密切相关,并与编码在相同途径中的酶的轨迹趋异转录,而两个基因的转录协同调控。人类基因组中包含该基因的几种假。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2008年7月提供]
PAICS基因(以及对应的蛋白质)的细胞分布位置:
PAICS基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Schizophrenia | 0.002367032 | 1 | 0 | GAD |
Androgen-Insensitivity Syndrome | 0.001357209 | 5 | 0 | BeFree |
Testicular Feminization | 0.001085767 | 4 | 0 | BeFree |
Reifenstein Syndrome | 0.000542884 | 2 | 0 | BeFree |
46, XY Disorders of Sex Development | 0.000542884 | 2 | 0 | BeFree |
Gonadal Dysgenesis | 0.000271442 | 1 | 0 | BeFree |
Gonadal Dysgenesis, Mixed | 0.000271442 | 1 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Turner Syndrome | 0.000271442 | 1 | 0 | BeFree |
Virilism | 0.000271442 | 1 | 0 | BeFree |
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