TMEM240

Chr 1

transmembrane protein 240

Also known as: C1orf70, SCA21

NCBI Gene: 339453 ENSG00000205090 UniProt: Q5SV17

The protein is a transmembrane domain-containing protein expressed in the brain and cerebellum. Mutations cause spinocerebellar ataxia 21, a progressive neurodegenerative disorder primarily affecting cerebellar function and coordination. This condition follows autosomal dominant inheritance.

ResearchSummary from RefSeq, OMIM

This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia 21

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.87

LOEUF

LOF*

Mechanism· G2P

Some data sources returned errors (1)

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