FAM83H
Summary: The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| family with sequence similarity 83 member H | MIM:611927 | Ensembl:ENSG00000180921 | HGNC:HGNC:24797 | PA144596434 | 8q24.3 |
GO terms in FAM83H
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | IDA | GO:1990254 | keratin filament binding |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0045095 | keratin filament |
| BP | IMP | GO:0030335 | positive regulation of cell migration |
| BP | IEA | GO:0031214 | biomineral tissue development |
| BP | IMP | GO:0044380 | protein localization to cytoskeleton |
| BP | IMP | GO:0045104 | intermediate filament cytoskeleton organization |
Gene expression in normal tissue: FAM83H
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FAM83H
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FAM83H
CLASSFICATION
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