Primary Identifier | MGI:2139090 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 99138 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable lipid binding activity. Acts upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Located in cytoplasm. Is expressed in central nervous system; liver; lung; and retina. Human ortholog(s) of this gene implicated in familial adult myoclonic epilepsy 2. Orthologous to human STARD7 (StAR related lipid transfer domain containing 7). PHENOTYPE: Heterozygous KO results in exaggerated allergic response (lung inflammation, increased epithelial barrier permeability and airway responsiveness) and atopic dermatitis. [provided by MGI curators] |