Human Gene FAM83H (uc003yzk.3) Description and Page Index
Description: Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. RefSeq Summary (NM_198488): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR3218371.187507.1, SRR9304717.596481.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000388913.4/ ENSP00000373565.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr8:144,806,103-144,815,914 Size: 9,812 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr8:144,808,091-144,812,752 Size: 4,662 Coding Exon Count: 4
ID:FA83H_HUMAN DESCRIPTION: RecName: Full=Protein FAM83H; FUNCTION: May play a major role in the structural organization and calcification of developing enamel. TISSUE SPECIFICITY: Expressed in the tooth follicle. DISEASE: Defects in FAM83H are the cause of amelogenesis imperfecta type 3 (AI3) [MIM:130900]. AI3 is an autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3 is characterized by enamel of normal thickness, but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. SIMILARITY: Belongs to the FAM83 family. SEQUENCE CAUTION: Sequence=BAC87207.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FAM83H CDC HuGE Published Literature: FAM83H Positive Disease Associations: Glucose Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6ZRV2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.