DHX34 (DExH-box helicase 34) — Gene

What This Gene Does

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"DEAH-box helicases|SURF complex|DECID complex"

Locus Type

gene with protein product

Location

19q13.32

Ensembl

ENSG00000134815

Associated Conditions (10)

DHX34-related disorder

6 conditions

Neurodevelopmental disorders

Intellectual disability

Short stature

Neurodevelopmental delay

Microcephaly

Unilateral renal agenesis

Seizure

Neurodevelopmental disorder

Key Variants

RS114585486

Conflicting classifications of pathogenicity

Health Risk

RS1599751192

Likely pathogenic

6 conditions, Neurodevelopmental disorders, 6 conditions

Health Risk

RS549149043

Likely pathogenic

Intellectual disability, Short stature, Neurodevelopmental delay

Health Risk

RS764483792

Pathogenic

Neurodevelopmental delay, Seizure, Intellectual disability

Health Risk

All Variants (4)

RSID	Category	Clinical Significance	Conditions
RS114585486	Health Risk	Conflicting classifications of pathogenicity	DHX34-related disorder, DHX34-related disorder
RS1599751192	Health Risk	Likely pathogenic	6 conditions, Neurodevelopmental disorders, 6 conditions
RS549149043	Health Risk	Likely pathogenic	Intellectual disability, Short stature, Neurodevelopmental delay
RS764483792	Health Risk	Pathogenic	Neurodevelopmental delay, Seizure, Intellectual disability

DHX34 Chromosome 19