RUSF1

Chr 16

RUS family member 1

Also known as: C16orf58, RUS

NCBI Gene: 64755 ENSG00000140688 UniProt: Q96GQ5

RUSF1 encodes a transmembrane protein with a conserved DUF647 domain that may mediate protein-protein interactions. Mutations cause autosomal recessive intellectual disability with microcephaly, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants, consistent with its role in neurodevelopmental disorders.

ResearchSummary from RefSeq

This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.39

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429