Primary Identifier | MGI:98724 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 21802 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables receptor ligand activity and transmembrane receptor protein tyrosine kinase activator activity. Involved in epidermal growth factor receptor signaling pathway and hepatocyte proliferation. Acts upstream of or within several processes, including angiogenesis; mammary gland alveolus development; and positive regulation of peptidyl-tyrosine phosphorylation. Is active in extracellular space. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in gastroenteritis and pancreatic cancer. Orthologous to human TGFA (transforming growth factor alpha). PHENOTYPE: Homozygous mutants have curly vibrissae, wavy hair with misaligned hair follicles, reduced body weight, and eye defects including open eyelids at birth, corneal scarring and microphthalmia. Some heterozygotes show mild forms of the eye abnormalities. [provided by MGI curators] |