Primary Identifier | MGI:1346013 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 23828 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cAMP binding activity. Involved in several processes, including positive regulation of receptor recycling; response to ischemia; and substrate adhesion-dependent cell spreading. Acts upstream of or within several processes, including hematopoietic progenitor cell differentiation; regulation of heart rate; and sinoatrial node cell development. Located in several cellular components, including bicellular tight junction; lateral plasma membrane; and sarcolemma. Is expressed in several structures, including gut; heart; leg muscle; reproductive system; and respiratory system. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2X. Orthologous to human POPDC1 (popeye domain cAMP effector 1). PHENOTYPE: Homozygous mutation of this gene results in delayed muscle regeneration following induced injury. Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node. [provided by MGI curators] |