Primary Identifier | MGI:1197012 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 11568 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity and carboxypeptidase activity. Acts upstream of or within regulation of DNA-templated transcription. Located in extracellular space. Is expressed in several structures, including alimentary system; cardiovascular system; embryo mesenchyme; genitourinary system; and skeleton. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome classic-like 2. Orthologous to human AEBP1 (AE binding protein 1). PHENOTYPE: Mice homozygous for one null allele exhibit neonatal lethality, abdominal wall herniation, extrusion of the abdominal organs, and defects in wound healing. Mice homozygous for another null allele exhibit embryonic lethality, decreased white adipose tissue, and resistance to diet-induced obesity. [provided by MGI curators] |