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Serine palmitoyltransferase long chain base subunit 1 pseudogene (SPTLC1 pseudogene)
- Target
- SPTLC1 pseudogene
- Molecular classification
- Other (Pseudogene), Not classified as enzyme, receptor, transporter, etc.
01
Overview
Serine palmitoyltransferase long chain base subunit 1 pseudogene is a genomic DNA sequence highly homologous to the SPTLC1 protein-coding gene, but it is classified as a pseudogene owing to mutations or truncations that prevent expression of a functional protein. Pseudogenes like ENSG00000228430 do not encode active enzymes, receptors, or transporters, and have no demonstrated molecular function, disease association, or role as drug targets. For clinical and research purposes, attention is focused on the protein-coding SPTLC1 gene, not this pseudogene[10][5][7].
- Other names
- Serine palmitoyltransferase long chain base subunit 1 pseudogeneSPTLC1PSPTLC1
02
Mechanism of action
None. No mechanism, pseudogenes are not drug targets.
03
Biological functions
OtherNo known functional molecular role; pseudogenes are typically non-functional remnants of once-active genes
04
Disease associations
OtherPseudogenes generally do not have direct disease associations; functional SPTLC1 protein-coding gene mutations are linked to hereditary sensory neuropathy and juvenile amyotrophic lateral sclerosis
05
Safety considerations
NonePseudogenes have no safety considerations or therapeutic challenges because they are not drug targets
06
Interacting drugs
None
1 more in the full profile.
07
Biomarkers
NoneThe pseudogene itself is not known to be a biomarker.
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