UniProt | Protein Name |
---|---|
Q8TDX6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endochondral ossification | ||
chondroitin sulfate biosynthetic process | ||
proteoglycan biosynthetic process | ||
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | ||
cartilage development |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi cisterna membrane | ||
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
acetylgalactosaminyltransferase activity | ||
glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | ||
glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | ||
metal ion binding | ||
peptidoglycan glycosyltransferase activity |
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | XP_224757 | XM_224757 |
Drosophila melanogaster | NP_610567 | NM_136723 |
Mus musculus | NP_766341 | NM_172753 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000256 | Macrocephaly |
HP:0000308 | Microretrognathia |
HP:0000311 | Round face |
HP:0000343 | Long philtrum |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0000444 | Convex nasal ridge |
HP:0000463 | Anteverted nares |
HP:0000470 | Short neck |
HP:0000494 | Downslanted palpebral fissures |
Disease ID | Disease Name |
---|---|
OMIM:618870 |
|
ORPHA:1425 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102125913 | MACFA40409 | ||
704901 | MACMU43782 | ||
105482127 | MACNE24678 | ||
101012979 | PAPAN39259 | ||
105539379 | MANLE17793 | ||
101154228 | GORGO40070 | ||
100987599 | PANPA37762 | ||
464030 | PANTR42067 | ||
100442293 | PONAB34958 | ||
482831 | CANLF04636 |
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Last updated: August 19, 2024