Primary Identifier | MGI:95283 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 13614 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables endothelin A receptor binding activity and receptor ligand activity. Involved in several processes, including cellular response to gonadotropin stimulus; circulatory system development; and neuron differentiation. Acts upstream of or within several processes, including G protein-coupled receptor signaling pathway; middle ear morphogenesis; and rhythmic excitation. Is active in extracellular space. Is expressed in several structures, including branchial arch; cardiovascular system; central nervous system; gut; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); lung disease (multiple); obesity; obstructive sleep apnea; and rheumatoid arthritis. Orthologous to human EDN1 (endothelin 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiovascular malformations, craniofacial abnormalities, and lethality due to respiratory failure at birth. Heterozygotes develop elevated arterial blood pressure. [provided by MGI curators] |