Reviewed December 2009
What is the official name of the SPTLC1 gene?
The official name of this gene is “serine palmitoyltransferase, long chain base subunit 1.”
SPTLC1 is the gene's official symbol. The SPTLC1 gene is also known by other names, listed below.
What is the normal function of the SPTLC1 gene?
The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions. The SPT enzyme, which is made up of three subunits, initiates the first step of sphingolipid production. Specifically, the enzyme combines the molecules serine and palmitoyl CoA to form a molecule called ketodihydrosphingosine. A series of additional chemical reactions produce sphingolipids. Within the cell, the SPT enzyme is mainly found on the endoplasmic reticulum, which is a structure involved in protein processing and transport.
How are changes in the SPTLC1 gene related to health conditions?
- hereditary sensory neuropathy type 1 - caused by mutations in the SPTLC1 gene
At least three mutations in the SPTLC1 gene have been found to cause hereditary sensory neuropathy type 1. These mutations change single protein building blocks (amino acids) in the SPTLC1 subunit. One mutation that has been seen in multiple affected families replaces the amino acid cysteine with the amino acid tryptophan at position 133 in the SPTLC1 subunit (written as Cys133Trp or C133W).
Altered SPTLC1 subunits can still be used to build SPT, but the resulting enzyme is nonfunctional. A lack of functional SPT enzyme leads to a decrease in sphingolipid production and a harmful buildup of certain byproducts. Sphingolipids are found in myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. A decrease in sphingolipids disrupts the formation of myelin, causing nerve cells to become less efficient and eventually die. When sphingolipids are not made, an accumulation of toxic byproducts can also lead to nerve cell death. This gradual destruction of nerve cells results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type 1.
Where is the SPTLC1 gene located?
Cytogenetic Location: 9q22.2
Molecular Location on chromosome 9: base pairs 94,793,415 to 94,877,755
The SPTLC1 gene is located on the long (q) arm of chromosome 9 at position 22.2.
More precisely, the SPTLC1 gene is located from base pair 94,793,415 to base pair 94,877,755 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SPTLC1?
You and your healthcare professional may find the following resources about SPTLC1 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1390/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SPTLC1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10558%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SPTLC1%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202160%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/605712)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=10558)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11277)
- Inherited Peripheral Neuropathies Mutation Database: Mutations in SPTLC1 (http://www.molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?Context=13)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10558)
What other names do people use for the SPTLC1 gene or gene products?
- long chain base biosynthesis protein 1
- serine C-palmitoyltransferase
- serine-palmitoyl-CoA transferase 1
- serine palmitoyltransferase subunit 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SPTLC1?
amino acid ;
endoplasmic reticulum ;
nerve cell ;
sensory neuropathy ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH Jr, Holleran WM, Hanada K. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest. 2002 Nov;110(9):1301-8. (http://www.ncbi.nlm.nih.gov/pubmed/12417569?dopt=Abstract)
- Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet. 2001 Mar;27(3):261-2. (http://www.ncbi.nlm.nih.gov/pubmed/11242106?dopt=Abstract)
- Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12. (http://www.ncbi.nlm.nih.gov/pubmed/11242114?dopt=Abstract)
- Hornemann T, Penno A, Richard S, Nicholson G, van Dijk FS, Rotthier A, Timmerman V, von Eckardstein A. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics. 2009 Apr;10(2):135-43. doi: 10.1007/s10048-008-0168-7. Epub 2009 Jan 9. (http://www.ncbi.nlm.nih.gov/pubmed/19132419?dopt=Abstract)
- Hornemann T, Richard S, Rütti MF, Wei Y, von Eckardstein A. Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase. J Biol Chem. 2006 Dec 8;281(49):37275-81. Epub 2006 Oct 4. (http://www.ncbi.nlm.nih.gov/pubmed/17023427?dopt=Abstract)
- Hornemann T, Wei Y, von Eckardstein A. Is the mammalian serine palmitoyltransferase a high-molecular-mass complex? Biochem J. 2007 Jul 1;405(1):157-64. (http://www.ncbi.nlm.nih.gov/pubmed/17331073?dopt=Abstract)
- Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25. Epub 2005 Dec 19. (http://www.ncbi.nlm.nih.gov/pubmed/16364956?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10558)
- Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ. Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Am J Hum Genet. 2001 Sep;69(3):655-9. Epub 2001 Jul 27. (http://www.ncbi.nlm.nih.gov/pubmed/11479835?dopt=Abstract)
- OMIM: SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1 (http://omim.org/entry/605712)
- Wei J, Yerokun T, Leipelt M, Haynes CA, Radhakrishna H, Momin A, Kelly S, Park H, Wang E, Carton JM, Uhlinger DJ, Merrill AH Jr. Serine palmitoyltransferase subunit 1 is present in the endoplasmic reticulum, nucleus and focal adhesions, and functions in cell morphology. Biochim Biophys Acta. 2009 Aug;1791(8):746-56. doi: 10.1016/j.bbalip.2009.03.016. Epub 2009 Apr 9. (http://www.ncbi.nlm.nih.gov/pubmed/19362163?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.