serine palmitoyltransferase, long chain base subunit 1
Enables serine C-palmitoyltransferase activity. Involved in regulation of fat cell apoptotic process and sphingomyelin biosynthetic process. Acts upstream of or within ceramide biosynthetic process; sphinganine biosynthetic process; and sphingosine biosynthetic process. Located in endoplasmic reticu
lum membrane. Is expressed in brain; epidermis; and liver. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 1A and juvenile amyotrophic lateral sclerosis type 27. Orthologous to human SPTLC1 (serine palmitoyltransferase long chain base subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Predicted to enable nucleosome binding activity. Predicted to be involved in nucleosome disassembly and transcription elongation by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of FACT complex. Is expressed in several structures, including alimentary system; brain;
hindlimb phalanx; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with dysmorphic facies and thin corpus callosum. Orthologous to human SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit). [provided by Alliance of Genome Resources, Jul 2025]
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52397876
52434696
Mouse
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old_gene_name , name , description , old_gene_symbol