Primary Identifier | MGI:1917311 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 70061 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in retinol metabolic process and steroid metabolic process. Predicted to be located in cytoplasm. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Used to study autosomal recessive congenital ichthyosis 13. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 13. Orthologous to human SDR9C7 (short chain dehydrogenase/reductase family 9C member 7). PHENOTYPE: Homozygous knockout affects the skin barrier function and results in dry skin, trans-epidermal water loss and death within five hours of birth. [provided by MGI curators] |