FAM83H - family with sequence similarity 83 member H Gene

Homo sapiens

Also known as AI3; AI3A

Gene ID: 286077 | Gene type: protein coding

About FAM83H

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,723,933-143,733,779 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 266 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in skin (RPKM 7.7), esophagus (RPKM 6.0) and 20 other tissues.

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]

FAM83H Products(1)

mRNA	Protein	Name
NM_198488.5	NP_940890.4	protein FAM83H

FAM83H Protein Structure

DUF1669

0
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1000
1179 a.a.

Protein Preferred Names

Protein Names

protein FAM83H

Related Diseases

Diseases

Alias

Amelogenesis Imperfecta, Type Iiia

Ai3	Adhcai
Amelogenesis Imperfecta Type 3	AI3A
Amelogenesis Imperfecta, Type Iii	Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant
Amelogenesis Imperfecta Type 3a	Amelogenesis Imperfecta Hypomineralization Type
Amelogenesis Imperfecta Type Iii	Hypocalcified Amelogenesis Imperfecta
Amelogenesis Imperfecta, Type 3	Amelogenesis Imperfecta, Hypomineralization Type
Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type	Amelogenesis Imperfecta 3a
Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Non-Invasive Bladder Urothelial Carcinoma

Stage 0 Bladder Urothelial Carcinoma

Amelogenesis Imperfecta, Type Iiic

AI3C	Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive
Amelogenesis Imperfecta Type 3c	Amelogenesis Imperfecta, Type 3c
Amelogenesis Imperfecta Type Iiic	Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type
Amelogenesis Imperfecta 3c

Brain Oligodendroglioma

Oligodendroglioma Of Brain

Jalili Syndrome

Cone-Rod Dystrophy And Amelogenesis Imperfecta	Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome
Cone-Rod Dystrophy Amelogenesis Imperfecta	Cone-Rod Dystrophy With Amelogenesis Imperfecta
JALIS	Cone Rod Dystrophy Amelogenesis Imperfecta

Teeth Hard Tissue Disease

Hypercementosis

Cementation Hyperplasia

Amelogenesis Imperfecta, Type Iv

AI4	Aihht
Amelogenesis Imperfecta Type 4	Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism	Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism
Amelogenesis Imperfecta 4	Ait
Amelogenesis Imperfecta 2 Hypocalcification Type	Amelogenesis Imperfecta Hypomineralization Type
Amelogenesis Imperfecta Type Iv	Amelogenesis Imperfecta With Taurodontism

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome	Tdo Syndrome
Trichodontoosseous Syndrome	TDO
Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Vexas Syndrome

VEXAS	Vexas Syndrome, Somatic
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory And Somatic Syndrome	Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional	Jeb
Epidermolysis Bullosa Atrophicans	Congenital Junctional Epidermolysis Bullosa
Epidermolysis Bullosa Junctional	Junctional Eb - [Epidermolysis Bullosa]
Jeb - [Junctional Epidermolysis Bullosa]	Lucidolytic Epidermolysis Bullosa

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04726	FAM83H Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FAM83H	VGNC	VGNC:72336
Felis catus	FAM83H	VGNC	VGNC:62134
Rattus norvegicus	FAM83H	RGD	RGD:1305866
Mus musculus	FAM83H	MGD	MGI:2145900
Bos taurus	FAM83H	VGNC	VGNC:28839
Canis familiaris	FAM83H	VGNC	VGNC:40705

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