CALCRL Chromosome 2

Calcitonin receptor like receptor
1 variant 1 Health Risk

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What This Gene Does
Enables adrenomedullin binding activity; adrenomedullin receptor activity; and calcitonin gene-related peptide receptor activity. Involved in several processes, including G protein-coupled receptor signaling pathway; cellular response to sucrose stimulus; and receptor internalization. Located in several cellular components, including endoplasmic reticulum; endosome; and lysosome. Part of CGRP receptor complex and adrenomedullin receptor complex. Implicated in hereditary lymphedema. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Calcitonin receptors
Locus Type
gene with protein product
Location
2q32.1
Ensembl
ENSG00000064989
Associated Conditions (1)
Lymphatic malformation 8
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1574226259 Health Risk Pathogenic Lymphatic malformation 8, Lymphatic malformation 8
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