spalt like transcription factor 4
Last updated 26 Sept 2025
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The SALL4 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs during embryonic development. SALL proteins are transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes.
Normal function
The SALL4 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs during embryonic development. SALL proteins are transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes.
The exact function of the SALL4 protein remains unclear. Based on the functions of similar proteins in other organisms (such as zebrafish and mice), the SALL4 protein appears to play a critical role in the developing limbs. This protein may also be important for the development of nerves that control eye movement and for the formation of the walls (septa) that divide the heart into separate chambers.
Conditions referring to this gene or chromosome
Other names
dJ1112F19.1
DRRS
HSAL4
MGC133050
sal (Drosophila)-like 4
sal-like 4
sal-like 4 (Drosophila)
SALL4_HUMAN
spalt-like transcription factor 4
Zinc finger protein SALL4
ZNF797
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Further reading and references
- spalt like transcription factor 4; MedlinePlus, National Library of Medicine.
- Ajam-Hosseini M, Parvini F, Angaji A. A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum. BMC Med Genomics. 2023 Feb 24;16(1):33. doi: 10.1186/s12920-023-01467-1.
- Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet. 2002 Nov;71(5):1195-9. doi: 10.1086/343821. Epub 2002 Oct 22.
- Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Muhlendyck H, Winter R, Giray O, Silan F, Kohlhase J. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901. No abstract available.
- Gao C, Kong NR, Li A, Tatetu H, Ueno S, Yang Y, He J, Yang J, Ma Y, Kao GS, Tenen DG, Chai L. SALL4 is a key transcription regulator in normal human hematopoiesis. Transfusion. 2013 May;53(5):1037-49. doi: 10.1111/j.1537-2995.2012.03888.x. Epub 2012 Aug 31.
- Harvey SA, Logan MP. sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. Development. 2006 Mar;133(6):1165-73. doi: 10.1242/dev.02259.
- Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215.
- Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 2002 Nov 1;11(23):2979-87. doi: 10.1093/hmg/11.23.2979.
- Kohlhase J. SALL4-Related Disorders. 2004 Aug 16 [updated 2022 Mar 17]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1373/
- Koshiba-Takeuchi K, Takeuchi JK, Arruda EP, Kathiriya IS, Mo R, Hui CC, Srivastava D, Bruneau BG. Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet. 2006 Feb;38(2):175-83. doi: 10.1038/ng1707. Epub 2005 Dec 25.
- Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. 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. Hum Genet. 2006 Mar;119(1-2):154-61. doi: 10.1007/s00439-005-0124-7. Epub 2006 Jan 3.
- Paradisi I, Arias S. IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. Am J Med Genet A. 2007 Feb 15;143(4):326-32. doi: 10.1002/ajmg.a.31603.
- Sun B, Xu L, Bi W, Ou WB. SALL4 Oncogenic Function in Cancers: Mechanisms and Therapeutic Relevance. Int J Mol Sci. 2022 Feb 12;23(4):2053. doi: 10.3390/ijms23042053.
- Tatetsu H, Kong NR, Chong G, Amabile G, Tenen DG, Chai L. SALL4, the missing link between stem cells, development and cancer. Gene. 2016 Jun 15;584(2):111-9. doi: 10.1016/j.gene.2016.02.019. Epub 2016 Feb 16.
- Terhal P, Rosler B, Kohlhase J. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. Am J Med Genet A. 2006 Feb 1;140(3):222-6. doi: 10.1002/ajmg.a.31060.
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