Primary Identifier | MGI:109563 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 12767 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including chemokine receptor activity; cytoskeletal protein binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including nervous system development; positive regulation of cold-induced thermogenesis; and positive regulation of oligodendrocyte differentiation. Acts upstream of or within several processes, including CXCL12-activated CXCR4 signaling pathway; circulatory system development; and nervous system development. Located in cell-cell junction; external side of plasma membrane; and growth cone. Is expressed in several structures, including alimentary system; cardiovascular system; embryo mesenchyme; extraembryonic component; and nervous system. Used to study WHIM syndrome 1; cardiomyopathy; and congestive heart failure. Human ortholog(s) of this gene implicated in several diseases, including WHIM syndrome 1; bone disease (multiple); hematologic cancer (multiple); pancreatic adenocarcinoma; and prostate cancer. Orthologous to human CXCR4 (C-X-C motif chemokine receptor 4). PHENOTYPE: Homozygous targeted null mutants exhibit altered viability, lungs, kidneys, immune system, hematopoiesis, myelopoiesis, cerebellar foliation, neuronal cell layer development, susceptibility to diet-induced obesity and adaptive thermogenesis. [provided by MGI curators] |