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.

Classification:

Primary antibody

Alternative names:

SMAL1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; EC 3.6.4.-; HepA-related protein; hHARP; Sucrose nonfermenting protein 2-like 1

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Isotype:

IgG

Immunogen:

Synthesized peptide derived from human SMAL1

Concentration:

1 mg/ml

Molecular weight:

Applications:

WB

Storage:

-20°C for 1 year

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