RENBP

Chr X

renin binding protein

Also known as: RBP, RNBP

NCBI Gene: 5973 ENSG00000102032 UniProt: P51606

The protein functions as a GlcNAc 2-epimerase that catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine and is involved in the N-glycolylneuraminic acid degradation pathway. The protein also inhibits renin activity through dimerization via its leucine zipper domain. Currently, no established Mendelian diseases have been definitively linked to RENBP mutations in the medical literature.

ResearchSummary from RefSeq, UniProt, Mechanism

The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.49

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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