AKR1B1, aldose reductase 1B1; AKR1C3, 3α-hydroxysteroid dehydrogenase type 3; CBR1, carbonyl reductase 1; eNOS, endothelial NOS; iNOS, inducible NOS; nNOS, neuronal NOS; OMIM, Online Mendelian Inheritance in Man.
Enzyme | EC number | Gene symbol | OMIM number | Chromosome location | Number of exons (amino acids) | Size (kDa×number of subunits) | Mouse model |
---|---|---|---|---|---|---|---|
GTPCH | 3.5.4.16 | GCH1 | 600225 | 14q22.1-q22.2 | 6 (250) | 27.9×10 | Not available |
hph-1 [177–181] | |||||||
GFRP (P35) | None | GCHFR | 602437 | 15q15 | 3 (84) | 9.7×5 | Gchfr conditional ko† |
PTPS | 4.2.3.12* | PTS | 612719 | 11q22.3-q23.3 | 6 (145) | 16.4×6 | Pts-ko [182,183]/Pts-ki [184] |
SR | 1.1.1.153 | SPR | 182125 | 2p13 | 3 (261) | 28.0×2 | Spr-ko [185] |
CR (CBR1) | 1.1.1.184 | CBR1 | 114830 | 21q22.13 | 3 (277) | 30.4×2 | Not available |
AR (AKR1B1) | 1.1.1.21 | AKR1B1 | 103880 | 7q35 | 10 (316) | 35.9×2 | Akr1b1-ko [193] |
AKR1C3 | 1.1.1.213 | AKR1C3 | 603966 | 10p15-p14 | 9 (323) | 36.9×2 | Not available |
DHFR | 1.5.1.3 | DHFR | 126060 | 5q11.2-q13.2 | 6 (187) | 21.5×2 | Not available |
PCD/DCoH1 | 4.2.1.96 | PCBD1 | 126090 | 10q22 | 4 (103‡) | 11.9×4§ | DCoH-ko [187] |
DHPR | 1.6.99.7 | QDPR | 612676 | 4p15.3 | 7 (244) | 25.8×2 | Qdpr-ko [189] |
PAH | 1.14.16.1 | PAH | 612349 | 12q24.1 | 4 (452) | 51.9×2 or×4 | enu1/enu2 [194,195] |
TH (TYH) | 1.14.16.2 | TH | 191290 | 11p15.5 | 14 (TH-4; 528)∥ | 58.5×4 | Th-ko [196,197] |
TPH1 (TPRH, TRPH) | 1.14.16.4 | TPH1 | 191060 | 11p15.3-p14 | 11 (444) | 51.0×4 | Tph1-ko [198] |
TPH2 (NTPH) | 1.14.16.4 | TPH2 | 607478 | 12q15 | 11 (490) | 65.0×4 | Tph2-(conditional) ko [199–201] |
AGMO (TMEM195) | 1.14.16.5 | AGMO | 613738 | 7p21.2 | 13 (445) | 51.5×? | Agmo conditional ko¶ |
NOS1 (nNOS, NOSI) | 1.14.19.39 | NOS1 | 163731 | 12q24.2-q24.31 | 28 (1434) | 161.0×2 | nNos-ko [205] |
NOS2 (iNOS, mNOS, NOSII) | 1.14.19.39 | NOS2 | 163730 | 17cen-q11.2 | 27 (1153) | 131.1×2 | iNos-ko [205] |
NOS3 (eNOS, ECNOS, NOSIII) | 1.14.19.39 | NOS3 | 163729 | 7q36 | 26 (1203) | 133.3×2 | eNos-ko [205] |
↵*EC 4.6.1.10 created in 1999; deleted in 2000.
↵†D. Adamsen, T. Scherer, N. Blau and B. Thöny, unpublished work.
↵‡In liver, the protein was found to lack the starting methionine residue.
↵§Homotetrameric (α4) only as a carbinolamine dehydratase, heterotetrameric (α2β2) in complex with HNF-1α.
↵∥For TH, four splice variants in intron 1 exist, TH-1 (13 exons, 497 amino acids), TH-2 (13 exons, 501 amino acids), TH-3 (14 exons, 524 amino acids) and TH-4 (14 exons, 528 amino acids) [227].
↵¶K. Watschinger, N. Yannoutsos, M.A. Keller, G. Golderer, G. Werner-Felmayer and E.R. Werner, unpublished work.