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Reviewed March 2015
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.
Read more about gene names and symbols on the About page.
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 that play a role in many cell functions. The SPT enzyme initiates the first step of sphingolipid production, in which the molecules serine and palmitoyl CoA combine to form a molecule called ketodihydrosphingosine. Additional chemical reactions convert ketodihydrosphingosine into various types of 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?
Where is the SPTLC1 gene located?
Cytogenetic Location: 9q22.2
Molecular Location on chromosome 9: base pairs 92,031,134 to 92,115,474
(Homo sapiens Annotation Release 107, GRCh38.p2) (
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 92,031,134 to base pair 92,115,474 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SPTLC1?
You and your healthcare professional may find the following resources about SPTLC1 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 SPTLC1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 SPTLC1?
acids ; amino acid ; cell ; CoA ; cysteine ; endoplasmic reticulum ; enzyme ; gene ; hereditary ; molecule ; mutation ; neuropathy ; peripheral ; peripheral neuropathy ; protein ; sensory neuropathy ; serine ; subunit ; toxic ; transferase ; tryptophan
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.