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

NEDRSO

Chr 9AR

small nuclear RNA activating complex polypeptide 4

Also known as: NEDRSO, PTFalpha, SNAP190

NCBI Gene: 6621 OMIM: 620515

The protein is the largest subunit of the small nuclear RNA-activating protein (SNAP) complex and is essential for RNA polymerase II and III transcription from small nuclear RNA promoters. Biallelic mutations cause neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, inherited in an autosomal recessive pattern. This condition involves the central nervous system with prominent motor dysfunction and feeding difficulties.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunctionMIM #620515

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction; 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/NEDRSO?content-type=application/json