DHX38

DEAH-box helicase 38

Ensembl:: ENSG00000140829
UniProt:: Q92620
OMIM:: 605584
Synonyms:: DDX38, HPRP16, KIAA0224, PRP16, PRPF16

Cilia effects upon perturbation of DHX38

Ciliogenesis screen results (4 screens)

Kim2016: Not Reported
Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.73) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: decreased hematocrit, abnormal coat/hair pigmentation, preweaning lethality, complete penetrance, decreased erythrocyte cell number, abnormal vocalization, embryonic lethality prior to organogenesis
Human ciliopathy phenotype:: retinitis pigmentosa

Subcellular localization

cilia associated gene, nucleus

Functional category

Ciliary assembly/disassembly
Metabolism

Function

Mutations in the DHX38 gene cause Retinitis Pigmentosa (PMID: 24737827).

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