RCBTB1

Chr 13

RCC1 and BTB domain containing protein 1

Also known as: CLLD7, CLLL7, GLP, RDEOA

NCBI Gene: 55213 ENSG00000136144 UniProt: Q8NDN9

This protein contains an RCC1 domain and BTB domain and may be involved in cell cycle regulation through chromatin remodeling. Mutations cause autosomal recessive retinal dystrophy with or without extraocular anomalies. The gene shows minimal constraint against loss-of-function variants in population databases.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinal dystrophy with or without extraocular anomalies

Clinical highlights

Gene-disease validity (ClinGen)

RCBTB1-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.79

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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