Primary Identifier | MGI:1298387 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14199 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable transmembrane transporter binding activity. Predicted to be involved in several processes, including negative regulation of mitotic cell cycle phase transition; regulation of membrane depolarization; and regulation of potassium ion transport. Predicted to be located in cytosol; nucleus; and plasma membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and sensory organ. Used to study scapuloperoneal myopathy. Human ortholog(s) of this gene implicated in Uruguay faciocardiomusculoskeletal syndrome; X-linked Emery-Dreifuss muscular dystrophy 6; reducing body myopathy 1A; and reducing body myopathy 1B. Orthologous to human FHL1 (four and a half LIM domains 1). PHENOTYPE: Mice homozygous for a null allele exhibit resistance to cardiomyopathy induced by transverse aortic constriction or transgene expression. [provided by MGI curators] |