Description : |
This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. |
Source : |
HEK293 |
Species : |
Human |
Tag : |
Myc/DDK |
Molecular Mass : |
40 kDa |
AA Sequence : |
MEKQPQNSRRGLAPREVPPAVGLLL IMALMNTLLYLCLDHFFIAPRQSTV DPTHCPYGHFRIGQMKNCSPWLSCE ELRTEVRQLKRVGEGAVKRVFLSEW KEHKVALSQLTSLEMKDDFLHGLQM LKSLQGTHVVTLLGYCEDDNTMLTE YHPLGSLSNLEETLNLSKYQNVNTW QHRLELAMDYVSIINYLHHSPVGTR VMCDSNDLPKTLSQYLLTSNFSILA NDLDALPLVNHSSGMLVKCGHRELH GDFVAPEQLWPYGEDVPFHDDLMPS YDEKIDIWKIPDISSFLLGHIEGSD MVRFHLFDIHKACKSQTPSERPTAQ DVLETYQKVLDTLRDAMMSQAREML TRTRPLEQKLISEEDLAANDILDYK DDDDKV |
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. |