DHX38

Function

Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131).

Involvement in disease

Retinitis pigmentosa 84

RP84

A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the DEAD box helicase family. DEAH subfamily. PRP16 sub-subfamily.

Cellular localization

• Nucleus

Alternative names

DDX38, KIAA0224, PRP16, DHX38, Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16, ATP-dependent RNA helicase DHX38, DEAH box protein 38

Database links

swissprot:Q92620 entrezGene:9785 genbank:NM_014003 omim:605584