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FLASH GENE

Symbol

SPTLC1

contributors: mct - updated : 30-08-2023

HGNC name	serine palmitoyltransferase, long chain base subunit 1
HGNC id	11277

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HSAN1 , ALS27

related resource

Mutation Database of Inherited Peripheral Neuropathies

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   decreased in renal cell carcinoma (RCC) tissues compared to non-tumor tissues, and low SPTLC1 expression was associated with poor overall survival of RCC patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer SPTLC1, SPTLC2, SPTLC3 and MIR137 may be potential therapeutic targets for sporadic Alzheimer disease

ANIMAL & CELL MODELS