DOHH Chromosome 19
Deoxyhypusine hydroxylase
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What This Gene Does
This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000129932
Associated Conditions (5)
DOHH related neurodevelopmental disorder
Neurodevelopmental disorder with microcephaly
cerebral atrophy
and visual impairment
DOHH-related disorder
Key Variants
RS553950608
Conflicting classifications of pathogenicity
DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy
Health Risk
RS761870531
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
Health Risk
RS1707310281
Pathogenic
DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy
Health Risk
RS2082890188
Pathogenic
DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy
Health Risk
RS2122051585
Pathogenic
DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy
Health Risk
RS748141704
Pathogenic
DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS553950608 | Health Risk | Conflicting classifications of pathogenicity | DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy |
| RS761870531 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment |
| RS1707310281 | Health Risk | Pathogenic | DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy |
| RS2082890188 | Health Risk | Pathogenic | DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy |
| RS2122051585 | Health Risk | Pathogenic | DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy |
| RS748141704 | Health Risk | Pathogenic | DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, cerebral atrophy |