Primary Identifier | MGI:97464 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 18453 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables integrin binding activity and protein-disulfide reductase activity. Involved in insulin processing. Acts upstream of with a positive effect on endoplasmic reticulum to Golgi vesicle-mediated transport. Acts upstream of or within cellular response to interleukin-7. Located in endoplasmic reticulum and external side of plasma membrane. Part of endoplasmic reticulum chaperone complex. Is active in endoplasmic reticulum lumen. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human P4HB (prolyl 4-hydroxylase subunit beta). PHENOTYPE: Mice heterozygous for a knock-out allele and conditional allele activated in immune cells exhibit impaired neutrophil recruitment. [provided by MGI curators] |