UniProt | Protein Name |
---|---|
A0A0G2JL78 |
|
P13942 |
|
Q4VXY6 |
|
A0A0C4DFS1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
soft palate development | ||
collagen fibril organization | ||
roof of mouth development | ||
sensory perception of sound | ||
skeletal system development |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum lumen |
GO Term | Evidence Code | PMID |
---|---|---|
protein-macromolecule adaptor activity | ||
metal ion binding | ||
extracellular matrix structural constituent conferring tensile strength | ||
protein binding | ||
heparin binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0080026 | otospondylomegaepiphyseal dysplasia, autosomal recessive | |
DOID:0080046 | Stickler syndrome | |
DOID:0080673 | fibrochondrogenesis 2 | |
DOID:0080677 | otospondylomegaepiphyseal dysplasia, autosomal dominant | |
DOID:0110509 | autosomal recessive nonsyndromic deafness 53 | |
DOID:0110545 | autosomal dominant nonsyndromic deafness 13 | |
DOID:2256 | osteochondrodysplasia | |
DOID:674 | cleft palate |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: February 17, 2025