Primary Identifier | MGI:95543 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 14228 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including heat shock protein binding activity; nuclear glucocorticoid receptor binding activity; and purine ribonucleoside triphosphate binding activity. Acts upstream of or within several processes, including androgen receptor signaling pathway; embryo implantation; and steroid hormone receptor complex assembly. Located in nucleus. Is expressed in epithelium of penile urethra; genital tubercle mesenchyme of male; pancreas epithelium; and prepuce of male. Used to study androgen insensitivity syndrome. Orthologous to human FKBP4 (FKBP prolyl isomerase 4). PHENOTYPE: Homozygous null males show reproductive tissue defects consistent with androgen insensitivity such as ambiguous external genitalia, dysgenic prostate, malformed seminal gland and cryptorchism. Males also exhibit hypospadia and infertility. Females are sterile due to failure of implantation. [provided by MGI curators] |