Primary Identifier | MGI:2444671 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 214112 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable magnesium ion transmembrane transporter activity. Involved in magnesium ion transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 6. Orthologous to human NIPAL4 (NIPA like domain containing 4). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality, impaired skin barrier function, weight loss, abnormal skin appearance, hyperkeratosis, impaired formation of lipid lamellae and keratohyalin granules, and altered epidermal ceramide composition. [provided by MGI curators] |