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NEDBAVC

Chr 12

DEAH-box helicase 37

Also known as: DDX37, Dhr1, NEDBAVC, SRXY11

NCBI Gene: 57647

This gene encodes a DEAD box RNA helicase involved in RNA processing including translation initiation, splicing, and ribosome assembly. Biallelic mutations cause a neurodevelopmental disorder with brain anomalies and variable vertebral or cardiac anomalies, inherited in an autosomal recessive pattern. The condition affects multiple organ systems during development, reflecting the fundamental role of RNA helicases in cellular processes.

ResearchSummary from RefSeq, OMIM

This gene encodes a DEAD box protein. 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical Summary— NEDBAVC

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Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDBAVC?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429