Primary Identifier | MGI:102897 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 18553 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heparin binding activity; nerve growth factor binding activity; and serine-type endopeptidase activity. Acts upstream of or within determination of left/right symmetry; protein processing; and zygotic determination of anterior/posterior axis, embryo. Predicted to be active in several cellular components, including cell surface; collagen-containing extracellular matrix; and extracellular space. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; limb; and skeleton. Orthologous to human PCSK6 (proprotein convertase subtilisin/kexin type 6). PHENOTYPE: Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both. [provided by MGI curators] |