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Reviewed December 2009

What is the official name of the SALL4 gene?

The official name of this gene is “spalt-like transcription factor 4.”

SALL4 is the gene's official symbol. The SALL4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SALL4 gene?

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.

How are changes in the SALL4 gene related to health conditions?

Duane-radial ray syndrome - caused by mutations in the SALL4 gene

More than 25 mutations in the SALL4 gene have been identified in people with Duane-radial ray syndrome (also known as Okihiro syndrome) or a very similar condition called acro-renal-ocular syndrome. Researchers suspect that Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an overlapping set of syndromes with many possible signs and symptoms.

Most SALL4 gene mutations create a premature stop signal in the instructions for making the SALL4 protein. As a result, cells do not produce any functional protein from one copy of this gene. Researchers are investigating how a reduction in the amount of the SALL4 protein disrupts eye, heart, and limb development in people with Duane-radial ray syndrome and acro-renal-ocular syndrome.

other disorders - caused by mutations in the SALL4 gene

A least one mutation in the SALL4 gene has been found to cause IVIC syndrome, a condition whose signs and symptoms overlap with those of Duane-radial ray syndrome and acro-renal-ocular syndrome. The acronym IVIC stands for Instituto Venezolano de Investigaciones Cientìficas, the center where the condition was first described. Major features of IVIC syndrome include abnormally formed bones in the arms and hands, hearing loss, and problems with eye movement caused by abnormalities of the muscles that surround the eyes (extraocular muscles).

The SALL4 gene mutation responsible for IVIC syndrome creates a premature stop signal in the instructions for making the SALL4 protein. As a result, cells produce an abnormally short version of the protein from one copy of this gene. It is unclear whether this shortened protein is completely nonfunctional or if it retains some of its function as a transcription factor. Researchers are working to determine how this SALL4 gene mutation disrupts early development and leads to the characteristic features of IVIC syndrome.

Where is the SALL4 gene located?

Cytogenetic Location: 20q13.2

Molecular Location on chromosome 20: base pairs 51,784,009 to 51,913,245

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The SALL4 gene is located on the long (q) arm of chromosome 20 at position 13.2.

The SALL4 gene is located on the long (q) arm of chromosome 20 at position 13.2.

More precisely, the SALL4 gene is located from base pair 51,784,009 to base pair 51,913,245 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SALL4?

You and your healthcare professional may find the following resources about SALL4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SALL4 gene or gene products?

  • dJ1112F19.1
  • DRRS
  • HSAL4
  • MGC133050
  • sal (Drosophila)-like 4
  • sal-like 4
  • sal-like 4 (Drosophila)
  • Zinc finger protein SALL4
  • ZNF797

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SALL4?

DNA ; embryonic ; extraocular muscles ; gene ; mutation ; protein ; renal ; septa ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (11 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: December 2009
Published: February 8, 2016