Sal-Like 1

Alternative Names

SALL1
HSAL1

Length

16,353 bases

No. of Exons

No. of isoforms

Protein Name

Sal-like protein 1

Molecular Mass

140405 Da

Amino Acid Count

1324

Genomic Location

chr16:51,135,982-51,152,334

Gene Map Locus

16q12.1

Description

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map

Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_002968.3:c.448AGC[15]	Saudi Arabia	NC_000016.10:g.51141745GCT[15]		Likely Pathogenic	Townes-Brocks Syndrome 1	NG_007990.1:g.14499AGC[15]; NM_002968.3:c.448AGC[15]; NP_002959.2:p.Ser155_Ser159dup	113614842

Download Table

External Links

https://medlineplus.gov/genetics/gene/sall1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SALL1

Contributors

Asha Deepthi: 11.11.2024

Edit History

Asha Deepthi: 11.11.2024

Back to search Result