SmarcAL1 Products

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	50485 Human
Uniprot	NP_054859 Human NP_054859.2 Human Q9NZC9 Human
Product By Gene ID	50485
Alternate Names	ATP-driven annealing helicase EC 3.6.1 EC 3.6.4.- HARPSWI/SNF-related matrix-associated actin-dependent regulator of chromatinsubfamily A-like protein 1 HepA-related protein hHARP HHARP SIOD SMARCA-like protein 1 subfamily a-like 1 Sucrose nonfermenting protein 2-like 1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin