anticorps SMARCAL1, anticorps im:7145331, anticorps si:ch211-239d11.1, anticorps harp, anticorps hharp, anticorps 6030401P21Rik, anticorps AI851716, anticorps Mharp, anticorps HARP, anticorps HHARP, anticorps SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1, anticorps SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1, anticorps SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1, anticorps Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1, anticorps SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 L homeolog, anticorps SMARCAL1, anticorps smarcal1, anticorps Smarcal1, anticorps smarcal1.L
Sujet
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,