UniProt | Protein Name |
---|---|
Q15800 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cholesterol biosynthetic process | ||
fatty acid metabolic process |
|
|
sterol biosynthetic process | ||
steroid metabolic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum |
|
|
endoplasmic reticulum membrane | ||
plasma membrane |
|
|
membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
C-4 methylsterol oxidase activity | ||
iron ion binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060250 | idiopathic scoliosis | |
DOID:10907 | microcephaly | |
DOID:162 | cancer | |
DOID:1697 | ichthyosis | |
DOID:2581 | chondrodysplasia punctata | |
DOID:37 | skin disease | |
DOID:4398 | pustulosis of palm and sole | |
DOID:4480 | achondroplasia | |
DOID:4766 | embryoma | |
DOID:6498 | seborrheic keratosis |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000498 | Blepharitis |
HP:0000519 | Developmental cataract |
HP:0000823 | Delayed puberty |
HP:0001256 | Intellectual disability, mild |
HP:0001263 | Global developmental delay |
HP:0001508 | Failure to thrive |
HP:0002750 | Delayed skeletal maturation |
HP:0002829 | Arthralgia |
Disease ID | Disease Name |
---|---|
OMIM:616834 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103183717 | CALMI28211 | ||
406662 | ZFIN:ZDB-GENE-040426-2670 | DANRE16587 | |
100304913 | ICTPU23731 | ||
113591218 | ELEEL46096 | ||
115183520 | SALTR50916 | ||
115540965 | GADMO41992 | ||
100692996 | ORENI63297 | ||
115591767 | SPAAU56818 | ||
108704957 | Xenbase:XB-GENE-17340780 | ||
108706637 | Xenbase:XB-GENE-6487329 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024