SIDT1

Chr 3

SID1 transmembrane family member 1

Also known as: SID-1, SID1

NCBI Gene: 54847 ENSG00000072858 UniProt: Q9NXL6 OMIM: 606816

The protein is a transmembrane channel that transports long double-stranded RNA (dsRNA) into cells and binds dsRNA of 300 base pairs or longer. Mutations cause autosomal recessive congenital cataract, hearing loss, and neurodegeneration with brain atrophy, representing a multisystem disorder affecting the eyes, ears, and central nervous system. The gene shows extremely high constraint against loss-of-function variants (pLI near 1), indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to SID1 family of transmembrane dsRNA-gated channels. Family members transport dsRNA into cells and are required for systemic RNA interference. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.87

LOEUF

Mechanism· predicted