COCH - coagulation factor C homolog, cochlin (Limulus polyphemus)
Entrez Gene Name: coagulation factor C homolog, cochlin (Limulus polyphemus)
Entrez GeneID: Human(1690)
, Mouse(12810), Rat(362735)
, Mouse(12810), Rat(362735) Synonyms: AW122937, COCH, Coch predicted, COCH-5B2, D12H14S564E, DFNA31, DFNA9, Lulu
Gene Summary
- Human (1690): The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene.
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
|
|
|
Literature References
- 17687037Wang JT, Kunzevitzky NJ, Dugas JC, Cameron M, Barres BA, Goldberg JL. Disease gene candidates revealed by expression profiling of retinal ganglion cell development.J Neurosci 2007 Aug 08;27(32):8593-603
- 14657014Rodriguez CI, Cheng JG, Liu L, Stewart CL. Cochlin, a secreted VWA domain containing factor, is regulated by LIF in the uterus at the time of embryo implantation.Endocrinology 2004 03 1;145(3):1410-8
- 11853668Yoo JY, Huso DL, Nathans D, Desiderio S. Specific ablation of Stat3beta distorts the pattern of Stat3-responsive gene expression and impairs recovery from endotoxic shock.Cell 2002 Feb 8;108(3):331-44 View 61 categorized literature findings and their references in IPA
Subcellular Locations
cytoplasm, endoplasmic reticulum/Golgi apparatus fractions, extracellular space, nucleus
