serine palmitoyltransferase long chain base subunit 2
| UniProt | Protein Name |
|---|---|
| O15270 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| sphingomyelin biosynthetic process | ||
| sphingolipid biosynthetic process | ||
| sphingolipid biosynthetic process | ||
| sphinganine biosynthetic process | ||
| sphingosine biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| serine C-palmitoyltransferase complex | ||
| serine C-palmitoyltransferase complex | ||
| serine C-palmitoyltransferase complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| serine C-palmitoyltransferase activity | ||
| serine C-palmitoyltransferase activity | ||
| protein binding | ||
| pyridoxal phosphate binding |
| Gene Ontology |
|---|
| catalytic activity |
| ceramide biosynthetic process |
| pyridoxal phosphate binding |
| serine C-palmitoyltransferase activity |
| sphingosine biosynthetic process |
| transferase activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070157 | hereditary sensory and autonomic neuropathy type 1C |
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000962 | Hyperkeratosis |
| HP:0000970 | Anhidrosis |
| HP:0001026 | Penetrating foot ulcers |
| HP:0001058 | Poor wound healing |
| HP:0001324 | Muscle weakness |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002141 | Gait imbalance |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| Disease ID | Disease Name |
|---|---|
| ORPHA:36386 |
|
| OMIM:613640 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025