SMNDC1 (survival motor neuron domain containing 1) is an essential splicing factor required for spliceosome assembly that belongs to the SMN family. It contains one Tudor domain with significant similarity to SMN (Survival Motor Neuron) and is expressed in skeletal muscle, pancreas and heart, localizing to Cajal bodies and nuclear speckles. Mutations in which are cause of autosomal recessive proximal spinal muscular atrophy.
Source:
Recombinant corresponding to human SMNDC1, fused to His-tag at N-terminus, expressed in E. coli.
Molecular Weight:
~28.9kD
Sequences of Amino Acids:
MGSSHHHHHH SSGLVPRGSH MSEDLAKQLA SYKAQLQQVE AALSGNGENE DLLKLKKDLQ EVIELTKDLL STQPSETLAS SDSFASTQPT
HSWKVGDKCM AVWSEDGQCY EAEIEEIDEE NGTAAITFAG YGNAEVTPLL NLKPVEEGRK AKEDSGNKPM SKKEMIAQQR EYKKKKALKK
AQRIKELEQE REDQKVKWQQ FNNRAYSKNK KGQVKRSIFA SPESVTGKVG VGTCGIADKP MTQYQDTSKY NVRHLMPQ
Storage and Stability:
May be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.