| 1345734 | SMS | spermine synthase | This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrom e (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] | X | 21940709 | 21994837 | Human | 246 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1318304 | RAI1 | retinoic acid induced 1 | This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression o f the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008] | 17 | 17681458 | 17811453 | Human | 398 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 25824857 | SMSP1 | SMS pseudogene 1 | | X | 47717807 | 47719180 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 16559215 | AC026774.2 | spermine synthase (SMS) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 16558618 | AC106800.1 | spermine synthase (SMS) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 16551967 | AL354714.2 | spermine synthase (SMS) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 16555319 | AL583856.1 | spermine synthase (SMS) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 1315069 | SAMD8 | sterile alpha motif domain containing 8 | Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025] | 10 | 75099593 | 75182123 | Human | 97 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1352309 | SGMS1 | sphingomyelin synthase 1 | The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008] | 10 | 50305600 | 50625184 | Human | 180 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1605563 | SGMS2 | sphingomyelin synthase 2 | Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthe sis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008] | 4 | 107824563 | 107915047 | Human | 264 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 734231 | SST | somatostatin | The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled soma tostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008] | 3 | 187668912 | 187670394 | Human | 211 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |