Primary Identifier | MGI:1349429 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 107566 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase regulator activity and transcription coactivator activity. Predicted to be involved in maintenance of protein location in nucleus and positive regulation of tyrosine phosphorylation of STAT protein. Predicted to be located in several cellular components, including centrosome; midbody; and nucleoplasm. Predicted to be active in mitochondrial intermembrane space. Is expressed in genitourinary system. Used to study male infertility and retinitis pigmentosa with or without situs inversus. Human ortholog(s) of this gene implicated in retinitis pigmentosa with or without situs inversus. Orthologous to human ARL2BP (ARF like GTPase 2 binding protein). PHENOTYPE: Mice homozygous for a null allele exhibit photoreceptor degeneration, progressive reduction in visual responses, outer segment disorganization with shortened axonemes and impaired ciliary doublet microtubule structure. [provided by MGI curators] |