UniProt | Protein Name |
---|---|
O15270 |
|
GO Term | Evidence Code | PMID |
---|---|---|
sphingomyelin biosynthetic process | ||
ceramide biosynthetic process | ||
adipose tissue development | ||
positive regulation of lipophagy | ||
sphingosine biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
serine C-palmitoyltransferase complex | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
pyridoxal phosphate binding | ||
serine C-palmitoyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110186 | Charcot-Marie-Tooth disease type 4D | |
DOID:0110187 | Charcot-Marie-Tooth disease type 4K | |
DOID:0110190 | Charcot-Marie-Tooth disease type 4B2 | |
DOID:0110191 | Charcot-Marie-Tooth disease type 4B1 | |
DOID:0110192 | Charcot-Marie-Tooth disease type 4H | |
DOID:0110193 | Charcot-Marie-Tooth disease type 4F | |
DOID:0110194 | Charcot-Marie-Tooth disease type 4B3 | |
DOID:0110195 | Charcot-Marie-Tooth disease type 4E | |
DOID:0110196 | Charcot-Marie-Tooth disease type 4G | |
DOID:0110197 | Charcot-Marie-Tooth disease dominant intermediate B |
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 | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179884 | WB:WBGene00011932 | ||
266646 | WB:WBGene00018398 | ||
34910 | FB:FBgn0002524 | ||
103186785 | CALMI35434 | ||
102354750 | LATCH17623 | ||
553646 | ZFIN:ZDB-GENE-050522-23 | DANRE12909 | |
557286 | ZFIN:ZDB-GENE-080305-8 | ||
108269990 | ICTPU34922 | ||
113571922 | ELEEL04087 | ||
105015447 | ESOLU45217 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024