| Primary Identifier | MGI:2442252 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 228357 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables coreceptor activity; protein homodimerization activity; and receptor tyrosine kinase binding activity. Involved in several processes, including positive regulation of Rac protein signal transduction; positive regulation of presynaptic membrane organization; and synapse organization. Acts upstream of or within several processes, including embryonic digit morphogenesis; negative regulation of canonical Wnt signaling pathway; and regionalization. Located in neuromuscular junction and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; eye; and genitourinary system. Used to study sclerosteosis 2. Human ortholog(s) of this gene implicated in Cenani-Lenz syndactyly syndrome; congenital myasthenic syndrome 17; and sclerosteosis 2. Orthologous to human LRP4 (LDL receptor related protein 4). PHENOTYPE: Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
