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:0050539 | Charcot-Marie-Tooth disease type 2 | |
DOID:0050548 | hereditary sensory neuropathy | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
DOID:0070152 | hereditary sensory and autonomic neuropathy type 1A | |
DOID:0070157 | hereditary sensory and autonomic neuropathy type 1C | |
DOID:0070161 | hereditary sensory and autonomic neuropathy type 2 | |
DOID:0070162 | hereditary sensory and autonomic neuropathy type 1 | |
DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
DOID:0110148 | Charcot-Marie-Tooth disease type 1A |
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 |
---|---|---|---|
457898 | PANTR09256 | ||
100446763 | PONAB07631 | ||
480403 | CANLF18130 | ||
112918310 | VULVU10771 | ||
123798937 | URSAM16748 | ||
100464437 | AILME05434 | ||
101693043 | MUSPF19295 | ||
101081055 | FELCA14164 | ||
118889974 | BALMU30702 | ||
100657055 | LOXAF16127 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024