Please refer to the vial lable for the specific concentration.
Purification:
Protein A/G
Buffer:
Supplied in PBS.
Storage:
Short Term: 2-8 degree. Long Term: -20 degree. Avoid multiple freeze-thaw cycles.
General Information
Background:
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.