UniProt | Protein Name |
---|---|
O15270 |
|
GO Term | Evidence Code | PMID |
---|---|---|
sphingolipid biosynthetic process | ||
sphingomyelin biosynthetic process | ||
sphingosine biosynthetic process | ||
ceramide biosynthetic process | ||
sphinganine biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
serine C-palmitoyltransferase complex |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
serine C-palmitoyltransferase activity | ||
pyridoxal phosphate binding |
Gene Ontology |
---|
ceramide biosynthetic process |
pyridoxal phosphate binding |
serine C-palmitoyltransferase activity |
sphingosine biosynthetic process |
transferase activity |
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 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
20773 | MGI:108074 | MOUSE08113 | ||
34910 | FB:FBgn0002524 | |||
179884 | WB:WBGene00011932 | |||
266646 | WB:WBGene00018398 | |||
366697 | RGD:1305447 | RATNO35858 | ||
444190 | Xenbase:XB-GENE-946147 | |||
457898 | 9598_0:003b70 | PANTR09256 | ||
480403 | CANLF18130 | |||
537972 | BOVIN01794 | |||
553646 | ZFIN:ZDB-GENE-050522-23 | DANRE12909 |
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GlyCosmos Portal v4.1.0
Last updated: December 9, 2024