human SMARCAL1 shRNA silencing AAV

ATP-driven annealing helicase; HARP; HepA-related protein; HHARP; SMARCA-like protein 1; sucrose nonfermenting protein 2-like 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

The SMARCs (SWI/SNF-related, matrix-associated, actin-dependent regulators of chromatin), and BAFs (BRG1-associated factors), have been identified as components of the mammalian SWI/SNF-like chromatin-remodeling protein complexes. These multi-protein complexes are proposed to function as ATP-driven motors that translocate along DNA and destabilize nucleosomal structures to facilitate transcription factor binding. SMARCAL1 is a member of the SNF2 family. SMARCAL1 is also known as human hep-related protein (HARP) due to its sequence identity with the E. coli RNA polymerase-binding protein HepA. It has been determined that mutations in SMARCAL1 are the cause of Schimke immuno-osseous dysplasia (SIOD), an autosomal-recessive disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction, facial dysmorphism, and T-cell immunodeficiency. The pleiotropic characteristics of SIOD indicate an important role for SMARCAL1 in the regulation of multiple genes that influence the proliferation of chondrocytes, lymphocytes, and spermatozytes, as well as the development of cardiomyocytes and vascular homeostasis.

SMARCAL1 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.

50485

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

SMARCAL1

HGNC:11102

9606.0

2865

2865 bp

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

NM_014140

NM_014140, NM_001127207, BC043341, BC016482,

Chromatin Remodeling,Helicase Activity,Signal Transduction,Transcription Factor/Regulator

signal_transduction,cell_biology,transcription_translation,cell_biology,genetics

human

The SMARCs (SWI/SNF-related, matrix-associated, actin-dependent regulators of chromatin), and BAFs (BRG1-associated factors), have been identified as components of the mammalian SWI/SNF-like chromatin-remodeling protein complexes. These multi-protein complexes are proposed to function as ATP-driven motors that translocate along DNA and destabilize nucleosomal structures to facilitate transcription factor binding. SMARCAL1 is a member of the SNF2 family. SMARCAL1 is also known as human hep-related protein (HARP) due to its sequence identity with the E. coli RNA polymerase-binding protein HepA. It has been determined that mutations in SMARCAL1 are the cause of Schimke immuno-osseous dysplasia (SIOD), an autosomal-recessive disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction, facial dysmorphism, and T-cell immunodeficiency. The pleiotropic characteristics of SIOD indicate an important role for SMARCAL1 in the regulation of multiple genes that influence the proliferation of chondrocytes, lymphocytes, and spermatozytes, as well as the development of cardiomyocytes and vascular homeostasis.

Hs.516674

Q9NZC9