Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene. This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme...
10 KB (1,069 words) - 12:00, 15 January 2024
by genetic mutations in SLC12A3, CLNCKB, BSND, KCNJ10, FXYD2, HNF1B or PCBD1. In these diseases, the hypomagnesemia is accompanied by other defects in...
40 KB (4,092 words) - 20:30, 1 April 2024
Tay–Sachs disease HEXA (15) recessive Tetrahydrobiopterin deficiency GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR recessive Thanatophoric dysplasia FGFR3 dominant...
42 KB (969 words) - 16:02, 3 April 2024
tetrahydrobiopterin deficiency. This condition is associated with mutations of the PCBD1 gene. As of 2020, PCDD was the rarest form of BH4 deficiency in terms of...
2 KB (305 words) - 13:23, 3 December 2023
HGNC:21199 Q96AQ6 11771 PC HGNC:8636 P11498 11772 PCARE HGNC:34383 A6NGG8 11773 PCBD1 HGNC:8646 P61457 11774 PCBD2 HGNC:24474 Q9H0N5 11775 PCBP1 HGNC:8647 Q15365...
282 KB (17 words) - 07:55, 20 June 2024
signs and symptoms of the disorder.[citation needed] Mutations in the GCH1, PCBD1, PTS and QDPR genes directly cause BH4 deficiency. Additionally, mutations...
10 KB (1,027 words) - 03:56, 25 April 2024
encoding enzyme bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 PCBD1: 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte...
28 KB (1,967 words) - 02:02, 11 April 2024
exons within the catalytic domain. DYRK1B has been shown to interact with: PCBD1 and RANBP9. One lone missense mutation in Dyrk1B gene (R102C) was found...
7 KB (894 words) - 23:06, 18 August 2023
has been shown to interact with: CREB-binding protein and EP300, PCAF, PCBD1, RAC3, Src, DCoH Hepatocyte nuclear factors Maturity onset diabetes of the...
23 KB (2,738 words) - 04:41, 8 March 2024