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IDDSSAD

Chr 7AD

actin like 6B

Also known as: ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha

NCBI Gene: 51412 OMIM: 618470

The protein is an actin-related protein that functions as a subunit of the BAF chromatin remodeling complex, which regulates gene expression by modifying chromatin structure, particularly in the brain. Mutations cause intellectual developmental disorder with severe speech and ambulation defects, inherited in an autosomal dominant pattern. This condition primarily affects neurological development with significant impairment in communication and motor function.

OMIM ResearchSummary from RefSeq, OMIM

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— IDDSSAD

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/IDDSSAD?content-type=application/json&expand=1

gnomad: Error: Gene not found