SPTLC3 Chromosome 20
Serine palmitoyltransferase long chain base subunit 3
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What This Gene Does
This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
Serine palmitoyltransferase long chain base subunits
Locus Type
gene with protein product
Location
20p12.1
Ensembl
ENSG00000172296
Associated Conditions (2)
Peripheral neuropathy
Sensory neuropathy
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755919784 | Health Risk | Likely pathogenic | Peripheral neuropathy, Sensory neuropathy, Peripheral neuropathy |