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:0007350 | Hyperreflexia in upper limbs |
HP:0007460 | Autoamputation of digits |
HP:0007550 | Hypohidrosis or hyperhidrosis |
HP:0008959 | Distal upper limb muscle weakness |
HP:0009027 | Foot dorsiflexor weakness |
HP:0009053 | Distal lower limb muscle weakness |
HP:0009763 | Limb pain |
HP:0010829 | Impaired temperature sensation |
HP:0010834 | Trophic changes related to pain |
HP:0011462 | Young adult onset |
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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Last updated: August 19, 2024