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Cat No | BSPA-0721 |
Conjugate | |
Type | Polyclonal Antibody |
Source | Rabbit |
Size | 1 mg |
Application | ELISA; IHC |
Format | Liquid |
Concentration | Please refer to the vial lable for the specific concentration. |
Buffer | Supplied in PBS. |
Species | Human |
Storage | Store at -20 degree. Avoid repeted freeze/thaw cycl. |
Synonyms | ORF1;AHI-1;JBTS3;dJ71N10.1 |
Purification | |
Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
MolecularWeight | |
Description | |
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 is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. |