FAM83H (family with sequence similarity 83 member H)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 286077 |
| Gene name | Family with sequence similarity 83 member H |
| Gene symbol | FAM83H |
| Synonyms (NCBI Gene) |
AI3AI3A
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| Chromosome | 8 |
| Chromosome location | 8q24.3 |
| 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] |
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SNPs
SNP information provided by dbSNP.
14
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miRNA
miRNA information provided by mirtarbase database.
840
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q6ZRV2 | ||||||||||
| Protein name | Protein FAM83H | ||||||||||
| Protein function | 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 ce | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in the tooth follicle. {ECO:0000269|PubMed:18252228}. | ||||||||||
| Sequence |
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| Sequence length | 1179 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
61
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