| Gene Information | |
|---|---|
| Gene Name | FCMD |
| Organism | Homo sapiens (Human) |
| Gene Length | 461 |
| Protein Names | Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) (Fukutin) (Fukuyama-type congenital muscular dystrophy protein) (Ribitol-5-phosphate transferase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O75072 |
| Gene Card | FKTN |
| Uniprot ID | O75072 |
| Pfam | PF19737; PF04991 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853). {ECO:0000269|PubMed:11115853, ECO:0000269|PubMed:29416295}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs41277797 rs119463995 rs34006675 rs119464997 rs119463996 rs119463994 rs34787999 rs779298204 rs1298422772 rs119463992 rs119463993 rs119464998 rs41313301 |
| Subcellular location [CC] | Golgi apparatus membrane {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:26923585}; Single-pass type II membrane protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:Q8R507}. Nucleus {ECO:0000250|UniProtKB:Q8R507}. Note=In retinal tissue, does not localize with the Golgi apparatus. {ECO:0000250|UniProtKB:Q8R507}. |
| Mouse PG classification | NA |
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