Human Gene FAM126A (uc003svm.4) Description and Page Index
Description: Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA. RefSeq Summary (NM_032581): The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]. 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 :: SRR1660807.137060.1, SRR1803616.164150.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr7:22,980,878-23,053,770 Size: 72,893 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr7:22,985,208-23,030,730 Size: 45,523 Coding Exon Count: 10
ID:HYCCI_HUMAN DESCRIPTION: RecName: Full=Hyccin; AltName: Full=Down-regulated by CTNNB1 protein A; AltName: Full=Protein FAM126A; FUNCTION: May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system. SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=According to PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein. TISSUE SPECIFICITY: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis. INDUCTION: Down-regulated by beta-catenin. DISEASE: Defects in FAM126A are the cause of leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]. This disorder is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. SIMILARITY: Belongs to the FAM126 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FAM126A";
Genetic Association Studies of Complex Diseases and Disorders
Platelet Aggregation Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
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 Q9BYI3
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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.