Primary Identifier | MGI:96974 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 17311 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytokine activity and stem cell factor receptor binding activity. Acts upstream of or within several processes, including positive regulation of cell differentiation; positive regulation of cell population proliferation; and positive regulation of protein phosphorylation. Located in extracellular space and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Waardenburg syndrome; autosomal dominant nonsyndromic deafness 69; familial progressive hyperpigmentation with or without hypopigmentation; and pigmentation disease. Orthologous to human KITLG (KIT ligand). PHENOTYPE: Mutations in this gene affect migration of embryonic stem cells and cause similar phenotypes to mutations in its receptor gene (Kit). Mutants show mild to severe defects in pigmentation, hemopoiesis and reproduction. [provided by MGI curators] |