Primary Identifier | MGI:107742 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 20897 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable retinol transmembrane transporter activity. Acts upstream of or within establishment of localization in cell; positive regulation of receptor signaling pathway via JAK-STAT; and retinol transport. Located in plasma membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; extraembryonic component; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in syndromic microphthalmia 9. Orthologous to human STRA6 (signaling receptor and transporter of retinol STRA6). PHENOTYPE: Male mice homozygous for a gene trap allele exhibit growth retardation. Mice homozygous for a knock-out allele exhibit persistent hyperplastic primary vitreous, shorter inner and outer segment and reduced rod and cone function. [provided by MGI curators] |