DPH7

Chr 9

diphthamide biosynthesis 7

Also known as: C9orf112, RRT2, WDR85

NCBI Gene: 92715 ENSG00000148399 UniProt: Q9BTV6

The protein catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate in diphthamide biosynthesis, which is a post-translational modification of translation elongation factor 2. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in early infancy, characterized by severe intellectual disability, seizures, and developmental delays. This represents a disorder of protein synthesis affecting the central nervous system.

ResearchSummary from RefSeq, UniProt

Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

LOEUF 1.22

Clinical Summary— DPH7

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Some data sources returned errors (1)

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