LEPROT

Chr 1

leptin receptor overlapping transcript

Also known as: OB-RGRP, OBRGRP, VPS55

NCBI Gene: 54741 ENSG00000213625 UniProt: O15243

LEPROT encodes a protein that negatively regulates cell surface expression of leptin and growth hormone receptors, particularly decreasing leptin response and contributing to hepatic growth hormone resistance during nutrient scarcity. Mutations cause autosomal recessive obesity and short stature, affecting metabolic and growth pathways. The gene shows moderate tolerance to loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]

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

0.87

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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