Description : |
Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. |
Source : |
Wheat Germ |
Species : |
Human |
Tag : |
GST |
Form : |
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
Molecular Mass : |
106.8 kDa |
AA Sequence : |
MDLILNRMDYLQVGVTSQKTMKLIP ASRHRATQKVVIGDHDGVVMCFGMK KGEAAAVFKTLPGPKIARLELGGVI NTPQEKIFIAAASEIRGFTKRGKQF LSFETNLTESIKAMHISGSDLFLSA SYIYNHYCDCKDQHYYLSGDKINDV ICLPVERLSRITPVLACQDRVLRVL QGSDVMYAVEVPGPPTVLALHNGNG GDSGEDLLFGTSDGKLALIQITTSK PVRKWEIQNEKKRGGILCIDSFDIV GDGVKDLLVGRDDGMVEVYSFDNAN EPVLRFDQMLSESVTSIQGGCVGKD SYDEIVVSTYSGWVTGLTTEPIHKE SGPGEELKINQEMQNKISSLRNELE HLQYKVLQERENYQQSSQSSKAKSA VPSFGINDKFTLNKDDASYSLILEV QTAIDNVLIQSDVPIDLLDVDKNSA VVSFSSCDSESNDNFLLATYRCQAD TTRLELKIRSIEGQYGTLQAYVTPR IQPKTCQVRQYHIKPLSLHQRTHFI DHDRPMNTLTLTGQFSFAEVHSWVV FCLPEVPEKPPAGECVTFYFQNTFL DTQLESTYRKGEGVFKSDNISTISI LKDVLSKEATKRKINLNISYEINEV SVKHTLKLIHPKLEYQLLLAKKVQL IDALKELQIHEGNTNFLIPEYHCIL EEADHLQEEYKKQPAHLERLYGMIT DLFIDKFKFKGTNVKTKVPLLLEIL DSYDQNALISFFDAA |
Notes : |
Best use within three months from the date of receipt of this protein. |
Storage : |
Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : |
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |