RAMP1

Chr 2

receptor activity modifying protein 1

NCBI Gene: 10267 ENSG00000132329 UniProt: O60894

RAMP1 encodes a single-transmembrane accessory protein that transports calcitonin receptor-like receptor (CRLR) to the plasma membrane and forms functional receptor complexes for calcitonin gene-related peptide (CGRP) and amylin signaling. Biallelic mutations cause a severe neurodevelopmental disorder with early-onset seizures, developmental delay, and microcephaly following autosomal recessive inheritance. The gene shows relatively low constraint to loss-of-function variation (pLI 0.13), consistent with recessive disease requiring biallelic variants.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)