嘌呤代谢
中文名称
通路描述
嘌呤代谢包括从头合成嘌呤核苷酸（AMP、GMP）从核糖 -5-磷酸，通过 PRPP amidotransferase 催化的 committed step。补救途径通过 HPRT 和 APRT 酶回收游离嘌呤；缺陷导致 Lesch-Nyhan 综合征或痛风。
英文描述
Purine metabolism encompasses de novo biosynthesis of purine nucleotides (AMP, GMP) from ribose-5-phosphate via the committed step catalyzed by PRPP amidotransferase. The salvage pathways recover free purines via HPRT and APRT enzymes; defects cause Lesch-Nyhan syndrome or gout.
所含基因
128 个基因
ADA
ADA2
ADCY1
ADCY10
ADCY2
ADCY3
ADCY4
ADCY5
ADCY6
ADCY7
ADCY8
ADCY9
ADK
ADPRM
ADSL
ADSS1
ADSS2
AK1
AK2
AK3
AK4
AK5
AK6
AK7
AK8
AK9
ALLC
AMPD1
AMPD2
AMPD3
APRT
ATIC
CANT1
DCK
DGUOK
ENPP1
ENPP3
ENPP4
ENTPD1
ENTPD2
ENTPD3
ENTPD4
ENTPD5
ENTPD6
ENTPD8
FHIT
GART
GDA
GMPR
GMPR2
GMPS
GUCY1A1
GUCY1A2
GUCY1B1
GUCY2C
GUCY2D
GUCY2F
GUK1
HDDC2
HDDC3
HPRT1
IMPDH1
IMPDH2
ITPA
LACC1
NME1
NME1-NME2
NME2
NME3
NME4
NME6
NME7
NPR1
NPR2
NT5C
NT5C1A
NT5C1B
NT5C1B-RDH14
NT5C2
NT5DC4
NT5E
NT5M
NTPCR
NUDT16
NUDT2
NUDT5
NUDT9
PAICS
PAPSS1
PAPSS2
PDE10A
PDE11A
PDE1A
PDE1B
PDE1C
PDE2A
PDE3A
PDE3B
PDE4A
PDE4B
PDE4C
PDE4D
PDE5A
PDE6A
PDE6B
PDE6C
PDE6D
PDE6G
PDE6H
PDE7A
PDE7B
PDE8A
PDE8B
PDE9A
PFAS
PGM1
PGM2
PNP
PPAT
PRPS1
PRPS1L1
PRPS2
PRUNE1
RRM1
RRM2
RRM2B
URAD
XDH