Gene Symbol Report 
SPTLC1
| Approved Symbol |
SPTLC1 |
|---|---|
| Approved Name |
serine palmitoyltransferase, long chain base subunit 1 |
| HGNC ID |
HGNC:11277 |
| Previous Symbols & Names |
"hereditary sensory neuropathy, type 1", HSN1 |
| Synonyms |
hLCB1, HSAN1, LCB1, SPTI |
| Locus Type |
gene with protein product |
| Chromosomal Location |
9q22.31 |
| SPECIALIST DATABASE |
EC:2.3.1.50 C |
|
|---|---|---|
| HOMOLOGS |
MGI:1099431 C Mouse Symbol: Sptlc1 RGD:1307140 D Rat Symbol: Sptlc1 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:Y08685 EMBL-Bank DDBJ C RefSeq:NM_006415 C CCDS:CCDS6692.1 C Vega:OTTHUMG00000021047 C |
|
| GENE RESOURCES |
Entrez Gene:10558 C Ensembl:ENSG00000090054 C UCSC:uc004arl.1 D Vega:OTTHUMG00000021047 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:O15269 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Inherited Peripheral Neuropathies Mutation Database C LRG:LRG_272 C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
