Primary Identifier | MGI:1341070 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 14232 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein folding chaperone. Acts upstream of or within several processes, including nervous system development; positive regulation of BMP signaling pathway; and smoothened signaling pathway. Located in endoplasmic reticulum membrane and mitochondrial envelope. Is expressed in embryo. Used to study clubfoot and spina bifida. Orthologous to human FKBP8 (FKBP prolyl isomerase 8). PHENOTYPE: Homozygous null mice display embryonic lethality, ventralization of neural cell fates, caudal neural tube dilation, and small eyes. [provided by MGI curators] |