DHX37
Function
ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis (PubMed:30582406). Required for the release of the U3 snoRNP from pre-ribosomal particles (PubMed:30582406). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). Plays a role in early testis development (PubMed:31287541, PubMed:31337883). Probably also plays a role in brain development (PubMed:31256877).
Involvement in disease
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
NEDBAVC
An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies.
None
The disease may be caused by variants affecting the gene represented in this entry.
46,XY sex reversal 11
SRXY11
An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia.
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.
Tissue Specificity
Expressed in the fallopian tube, ovary, uterus and testis. Also expressed in the brain.
Cellular localization
- Nucleus
- Nucleolus
- Cytoplasm
- Nucleus membrane
Alternative names
DDX37, KIAA1517, DHX37, Probable ATP-dependent RNA helicase DHX37, DEAH box protein 37