Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

NEDBAVC

Chr 12AR

DEAH-box helicase 37

Also known as: DDX37, Dhr1, NEDBAVC, SRXY11

NCBI Gene: 57647 OMIM: 618731

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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomaliesMIM #618731

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (2)

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