Primary Identifier | MGI:95689 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 242316 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables identical protein binding activity. Involved in several processes, including SMAD protein signal transduction; fat cell differentiation; and positive regulation of p38MAPK cascade. Acts upstream of or within with a positive effect on cell migration involved in metanephros development and epithelial cell migration. Acts upstream of or within BMP signaling pathway and positive regulation of neuron differentiation. Located in extracellular space. Is expressed in several structures, including craniocervical region bone; ganglia; limb; respiratory system cartilage; and sensory organ. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4. Orthologous to human GDF6 (growth differentiation factor 6). PHENOTYPE: Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull. [provided by MGI curators] |