Dihydropyriminidase

Alternative Names

DPYS
5,6-Dihydropyrimidine Amidohydrolase
DHP
Hydantoinase

Length

136,730 bases

No. of Exons

No. of isoforms

Protein Name

Dihydropyrimidinase

Molecular Mass

56630 Da

Amino Acid Count

519

Genomic Location

chr8:104,330,324-104,467,053

Gene Map Locus

8q22.3

Description

The DPYS gene codes for an important enzyme involved in the break down of the pyrimidine nucleobases, uracil and thymine. It is the second enzyme in the three-step catabolic pathway of these bases.

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001385.2:c.1078T>C	Lebanon	NC_000008.11:g.104427994A>G	Likely Pathogenic, Pathogenic	Pathogenic	Dihydropyrimidinase Deficiency	NG_008840.1:g.44056T>C; NM_001385.2:c.1078T>C; NP_001376.1:p.Trp360Arg	121964924	186

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYS https://www.ncbi.nlm.nih.gov/gene/1807

Contributors

Pratibha Nair: 03.03.2019

Edit History

Sayeeda Hana: 19.06.2021
Pratibha Nair: 03.03.2019

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