SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Position
2 : 216412414 - 216483053
Length
70640 bases
Strand
Plus strand
Status
Confidence
Main interacting RNAs
N.A.
RBP type
Canonical_RBPs
Summary
The protein 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. [provided by RefSeq, Jul 2008]