RecName: Full=2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; - Protein

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The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population. [Pathol Res Pract. 2022]
The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population.
Yu L, Li Y, Wang H, Wang D, Hao H, Zhang D, Liang X, Cai M, Guan R, Bai J, et al. Pathol Res Pract. 2022 Feb; 230:153755. Epub 2021 Dec 30.
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome). [Am J Med Genet A. 2021]
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).
Cheng SSW, Luk HM, Lo IFM. Am J Med Genet A. 2021 Jun; 185(6):1925-1931. Epub 2021 Mar 11.
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. [Eur J Hum Genet. 2020]
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, et al. Eur J Hum Genet. 2020 Jan; 28(1):64-75. Epub 2019 Mar 15.

RefSeq genomic sequence
See the genomic reference sequence for the DPH1 gene (NG_051946.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the DPH1 gene.

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Q9BZG8 [Domain Mapping of Disease Mut...]
Q9BZG8
Domain Mapping of Disease Mutations
Reactome [Reactome]
Reactome

RecName: Full=2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; AltName: ...
RecName: Full=2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; AltName: Full=Diphthamide biosynthesis protein 1; AltName: Full=Diphtheria toxin resistance protein 1; AltName: Full=Ovarian cancer-associated gene 1 protein; AltName: Full=S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1
gi|2450958316|sp|Q9BZG8.3|DPH1_HUMA

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