SMARCAL1 antibody, im:7145331 antibody, si:ch211-239d11.1 antibody, harp antibody, hharp antibody, 6030401P21Rik antibody, AI851716 antibody, Mharp antibody, HARP antibody, HHARP antibody, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 antibody, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 antibody, SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 antibody, Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 antibody, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 L homeolog antibody, SMARCAL1 antibody, smarcal1 antibody, Smarcal1 antibody, smarcal1.L antibody
Background
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.
Alias Symbols: SMARCAL1, HARP,
Protein Interaction Partner: UBC, RPA3, RPA2, RPA1, SULT1A1, Cebpb,