Primary Identifier | MGI:1195276 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 14533 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable peptide-lysine-N-acetyltransferase activity. Involved in anterograde synaptic vesicle transport. Located in cytosol; early endosome; and mitochondrion. Part of BLOC-1 complex. Is expressed in brain; long bone epiphyseal plate hypertrophic zone; and long bone epiphyseal plate proliferative zone. Orthologous to human BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1). PHENOTYPE: Homozygous inactivation of this gene leads to embryonic lethality. Mouse embryonic fibroblasts show alterations in autophagy, mitochondrial physiology, and vesicle-mediated transport. [provided by MGI curators] |