Primary Identifier | MGI:1354735 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 50770 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Involved in positive regulation of myotube differentiation. Acts upstream of or within in utero embryonic development. Predicted to be located in Golgi apparatus. Predicted to be part of phospholipid-translocating ATPase complex. Predicted to be active in endoplasmic reticulum; plasma membrane; and recycling endosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; lung; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 84 and hypomyelinating leukodystrophy 24. Orthologous to human ATP11A (ATPase phospholipid transporting 11A). PHENOTYPE: Mice homozygous for a conditional allele activated in muscle cells exhibit abnormal myoblast function in culture and abnormal skeletal muscle regeneration. [provided by MGI curators] |