Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IP
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, ICC/IF
Host: Mouse Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: WB, ELISA, PA, AP
Species: Hu
Applications: WB, ELISA, PA, AP
Species: Hu
Applications: AC
Description
SmarcAL1 is encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
Human
|
| Product By Gene ID |
50485 |
| Alternate Names |
- ATP-driven annealing helicase
- EC 3.6.1
- SIOD
- HepA-related protein
- hHARP
- Sucrose nonfermenting protein 2-like 1
- EC 3.6.4.-
- HHARP
- HARPSWI/SNF-related matrix-associated actin-dependent regulator of chromatinsubfamily A-like protein 1
- SMARCA-like protein 1
- subfamily a-like 1
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin
|
Bioinformatics Tool for SmarcAL1
Discover related pathways, diseases and genes to SmarcAL1. Need help? Read the
Bioinformatics Tool Guide for instructions on using this tool.
