Primary Identifier | MGI:96738 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 67669 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable Hsp70 protein binding activity and nuclear import signal receptor activity. Acts upstream of or within Golgi organization and lung development. Located in cytoplasm. Is expressed in several structures, including adrenal gland; heart; intestine; liver; and respiratory system. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 13. Orthologous to human HIKESHI (heat shock protein nuclear import factor hikeshi). PHENOTYPE: Mice homozygous for an ENU-induced mutation die prenatally or neonatally, and exhibit cyanoisis with a significant emphysematous phenotype at birth. The secretory apparatus in Clara cells is also affected. [provided by MGI curators] |