Predicted to enable heme binding activity; iron ion binding activity; and oxidoreductase activity. Predicted to be located in membrane. Expressed in intestinal cell. Human ortholog(s) of this gene implicated in Bietti crystalline corneoretinal dystrophy. Is an ortholog of human CYP4V2 (cytochrome P450 family 4 subfamily V member 2).
PHENOTYPE: Mice homozygous for a disruption of this gene show a significant drop in fasting blood glucose. Females also show a significant drop in plasma triacylglycerol. [provided by MGI curators]
This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]
Drop (Dr) encodes a homeodomain transcription factor involved in patterning of the neuroectoderm and wing disc, specification of myoblasts and neuroblasts, proper development of muscle, neuronal and glial cells, male genital disc, and regulation of glucose metabolism.
drop out (dop) encodes a microtubule-associated Ser/Thr (MAST) protein kinase. Among its potential substrates is the microtubule motor Dynein. The product of dop is required for membrane growth and polarity during cell formation in the early cleavage stage embryo.
PHENOTYPE: Homozygous mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis(drop wrist). [provided by MGI curators]
PHENOTYPE: Homozygous null mice that bypass neonatal lethality die prematurely due to severe gastrointestinal obstruction and exhibit hypertension, reduced heart rate, lack of glycerol trinitrate-induced drop in systolic pressure, and lack of a nitric oxide effect on aortic relaxation and platelet aggregation. [provided by MGI curators]