| Description : |
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
53.5 kDa |
| AA Sequence : |
MSRINKNVVLALLTLTSSAFLLFQL YYYKHYLSTKNGAGLSKSKGSRIGF DSTQWRAVKKFIMLTSNQNVPVFLI DPLILELINKNFEQVKNTSHGSTSQ CKFFCVPRDFTAFALQYHLWKNEEG WFRIAENMGFQCLKIESKDPRLDGI DSLSGTEIPLHYICKLATHAIHLVV FHERSGNYLWHGHLRLKEHIDRKFV PFRKLQFGRYPGAFDRPELQQVTVD GLEVLIPKDPMHFVEEVPHSRFIEC RYKEARAFFQQYLDDNTVEAVAFRK SAKELLQLAAKTLNKLGVPFWLSSG TCLGWYRQCNIIPYSKDVDLGIFIQ DYKSDIILAFQDAGLPLKHKFGKVE DSLELSFQGKDDVKLDVFFFYEETD HMWNGGTQAKTGKKFKYLFPKFTLC WTEFVDMKVHVPCETLEYIEANYGK TWKIPVKTWDWKRSPPNVQPNGIWP ISEWDEVIQLYTRTRPLEQKLISEE DLAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
