FAM83H

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).

Full Name

Family With Sequence Similarity 83 Member H

Research Area

May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228).

May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688).

Biological Process

Biomineral tissue development Source: UniProtKB-KW
Intermediate filament cytoskeleton organization Source: UniProtKB
Positive regulation of cell migration Source: UniProtKB
Protein localization to cytoskeleton Source: UniProtKB
Signal transduction Source: GO_Central

Cellular Location

Cytoskeleton. Colocalizes with keratin filaments.

Involvement in disease

Amelogenesis imperfecta 3A (AI3A):
An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.

Anti-FAM83H antibodies

Rabbit Anti-FAM83H Recombinant Antibody (CBXF-1103) (CBMAB-F0795-CQ)

Datasheet

SDS

Target: FAM83H

Host: Rabbit

Antibody Isotype: IgG

Specificity: Human

Clone: CBXF-1103

Application*: WB

For Research Use Only. Not For Clinical Use.

(P): Predicted

* Abbreviations

IFImmunofluorescence

IHImmunohistochemistry

IPImmunoprecipitation

WBWestern Blot

EELISA

MMicroarray

CIChromatin Immunoprecipitation

FFlow Cytometry

FNFunction Assay

IDImmunodiffusion

RRadioimmunoassay

TCTissue Culture

GSGel Supershift

NNeutralization

BBlocking

AActivation

IInhibition

DDepletion

ESELISpot

DBDot Blot

MCMass Cytometry/CyTOF

CTCytotoxicity

SStimulation

AGAgonist

APApoptosis

IMImmunomicroscopy

BABioassay

CSCostimulation

EMElectron Microscopy

IEImmunoelectrophoresis

PAPeptide Array

ICImmunocytochemistry

PEPeptide ELISA

MDMeDIP

SHIn situ hybridization

IAEnzyme Immunoassay

SEsandwich ELISA

PLProximity Ligation Assay

ECELISA(Cap)

EDELISA(Det)

BIBioimaging

IOImmunoassay

LFLateral Flow Immunoassay

LALuminex Assay

CImmunohistochemistry-Frozen Sections

PImmunohistologyp-Paraffin Sections

ISIntracellular Staining for Flow Cytometry

MSElectrophoretic Mobility Shift Assay

RIRNA Binding Protein Immunoprecipitation (RIP)