Gene: SALL4

Alternate names for this Gene: DRRS|HSAL4|ZNF797

Gene Summary: This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.2

Description of this Gene: spalt like transcription factor 4

Type of Gene: protein-coding

rs17201143 in SALL4 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs6126344 in SALL4 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs6126344 in SALL4 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs74315429 in SALL4 gene and Okihiro Syndrome PMID 12393809 2002 Okihiro syndrome is caused by SALL4 mutations.

PMID 12395297 2002 Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

PMID 16402211 2006 A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

PMID 26791099 2016 Novel frameshift variant in gene SALL4 causing Okihiro syndrome.