Primary Identifier | MGI:1914544 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 230233 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; protein kinase activity; and tRNA binding activity. Involved in tRNA wobble uridine modification. Located in cytoplasm. Is expressed in several structures, including brain; genitourinary system; liver; lung; and spleen. Used to study Riley-Day syndrome and hemophagocytic lymphohistiocytosis. Human ortholog(s) of this gene implicated in Riley-Day syndrome; asthma; kyphosis; medulloblastoma; and scoliosis. Orthologous to human ELP1 (elongator acetyltransferase complex subunit 1). PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. [provided by MGI curators] |