Protein Summary
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
- ENST00000310917
- ENSP00000311683
- ENSG00000173040
- ENST00000344408
- ENSP00000342144
- LBN
- LBN
- WAD
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
cellular component | 0.68 | ||
histone modification site profile | 0.67 | ||
tissue sample | 0.64 | ||
cell line | 0.56 | ||
cell type or tissue | 0.56 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 115.57 (req: < 5)
Gene RIFs: 24 (req: <= 3)
Antibodies: 121 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 115.57 (req: >= 5)
Gene RIFs: 24 (req: > 3)
Antibodies: 121 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Term: 1
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0