The SNAI2 gene (often called SLUG) provides the instructions for making a protein called snail 2. Snail 2 belongs to the snail protein family, which plays a role in the formation of tissues during embryonic development. The snail 2 protein is also found in most adult tissues, so it probably helps maintain the normal function of cells after birth. To carry out these roles, snail 2 attaches to critical regions of DNA and helps control the activity of particular genes. On the basis of this action, the protein is called a transcription factor.
Research indicates that the snail 2 protein is required during embryonic growth for the development of cells called neural crest cells. Neural crest cells migrate from the developing spinal cord to specific regions in the embryo and give rise to many tissues and cell types, including some nerve tissue and pigment-producing cells called melanocytes. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found in certain regions of the brain and inner ear. The snail 2 protein probably plays a role in the formation and survival of melanocytes.
Health Conditions Related to Genetic Changes
One copy of the SNAI2 gene is missing (deleted) in some cases of piebaldism, a condition characterized by white patches of skin and hair caused by a lack of pigmented cells (melanocytes). Loss of one copy of the gene probably reduces the production of the snail 2 protein. Shortage of the snail 2 protein may disrupt the development of melanocytes in certain areas of the skin and hair, causing the patchy loss of pigment.More About This Health Condition
In some cases of Waardenburg syndrome type II, both copies of the SNAI2 gene are missing. With no copies of the gene, the snail 2 protein is absent. Lack of snail 2 may disrupt the development of melanocytes in certain areas of the skin, hair, eyes, and inner ear, leading to hearing loss and the patchy loss of pigmentation that are characteristic features of Waardenburg syndrome type II.More About This Health Condition
Other Names for This Gene
- neural crest transcription factor SLUG
- slug homolog, zinc finger protein (chicken)
- snail 2
- snail family zinc finger 2
- snail homolog 2 (Drosophila)
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW. Human SLUG gene organization, expression, and chromosome map location on 8q. Genomics. 1998 Aug 1;51(3):468-71. doi: 10.1006/geno.1998.5367. Citation on PubMed
- Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x. Epub 2009 Jun 23. Citation on PubMed
- Hemavathy K, Guru SC, Harris J, Chen JD, Ip YT. Human Slug is a repressor that localizes to sites of active transcription. Mol Cell Biol. 2000 Jul;20(14):5087-95. doi: 10.1128/MCB.20.14.5087-5095.2000. Citation on PubMed or Free article on PubMed Central
- Lopez V, Jorda E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb 15;17(2):13. Citation on PubMed
- Sanchez-Martin M, Perez-Losada J, Rodriguez-Garcia A, Gonzalez-Sanchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sanchez-Garcia I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32. doi: 10.1002/ajmg.a.20345. Citation on PubMed
- Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet. 2002 Dec 1;11(25):3231-6. doi: 10.1093/hmg/11.25.3231. Citation on PubMed
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