Primary Identifier | MGI:1926944 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 54598 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcitonin gene-related peptide receptor activity. Acts upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway; heart development; and positive regulation of vascular associated smooth muscle cell proliferation. Predicted to be located in endoplasmic reticulum; endosome; and lysosome. Predicted to be part of CGRP receptor complex and adrenomedullin receptor complex. Predicted to be active in neuronal dense core vesicle and plasma membrane. Is expressed in dorsal root ganglion; jugular lymph sac; and lung epithelium. Human ortholog(s) of this gene implicated in hereditary lymphedema. Orthologous to human CALCRL (calcitonin receptor like receptor). PHENOTYPE: Homozygous mutation of this gene results in lethality between E13.5-E14.5, hydrops fetalis and cardiovascular defects such as thin vascular smooth muscle walls and small, disorganized hearts resulting from a decrease in cell proliferation and an increasein apoptosis. [provided by MGI curators] |