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Gene : FAM83H Homo sapiens

Name  ? family with sequence similarity 83 member H Cytological Location  8q24.3
Brief Description  family with sequence similarity 83 member H
Description  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]
  • synonyms:
  • FAM83H,
  • NM_198488,
  • AI3,
  • AK127960,
  • uc064rej.1,
  • OTTHUMG00000133559,
  • FLJ46072,
  • HGNC:24797,
  • family with sequence similarity 83, member H,
  • AI3A
  • identifiers:
  • 286077,
  • ENSG00000180921,
  • FAM83H

Genome feature

Region: gene ? Length: 9847  
Location: 8:143723933-143733779 reverse strand Cyto location: 8q24.3

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

914 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results