Orphanet: dehydrodolichyl diphosphate synthase subunit

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DHDDS - dehydrodolichyl diphosphate synthase subunit

Synonym(s) : DS, FLJ13102, hCIT, HDS, RP59
Previous symbols and names : dehydrodolichyl diphosphate synthase
Type : gene with protein product
Chromosomal location : 1p36.11
OMIM: 608172
HGNC: 20603
UniProtKB: Q86SQ9
Genatlas: DHDDS
Ensembl: ENSG00000117682
IUPHAR-DB: -
Reactome: Q86SQ9
LOVD: DHDDS

Diseases list

Disease-causing germline mutation(s) in Retinitis pigmentosa ORPHA:791
Disease-causing germline mutation(s) in Undetermined early-onset epileptic encephalopathy ORPHA:442835

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (36)

Research activities on this gene

Specialised Social Services

Eurordis directory

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