Primary Identifier | MGI:3582693 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 208263 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATPase activator activity; ATPase binding activity; and lamin binding activity. Acts upstream of or within nuclear membrane organization and protein localization to nuclear envelope. Located in nuclear envelope. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system; and integumental system. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Y. Orthologous to human TOR1AIP1 (torsin 1A interacting protein 1). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit perinatal lethality and nuclear membrane blebs in neural and nonneural tissues. [provided by MGI curators] |