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Description for Protein FAM83H

family with sequence similarity 83, member H
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    FLJ46072; LOC286077
    Approved Symbol:
    FAM83H
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 53
    Human (de-) phosphorylation sites: 53; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 13521 Entrez Gene ID: 286077 OMIM ID: 611927 Swissprot Accession: Q6ZRV2; Q71RB4;