中文名稱: BBS1抗原(重組蛋白)
Full name: |
Bardet-Biedl syndrome 1 |
Synonyms: |
BBS2L2 |
Swissprot: |
Q8NFJ9 |
Gene Accession: |
BC109064 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. |