FKRP fukutin related protein [Homo sapiens (human)]
| Gene Symbol | FKRP |
| Entrez Gene ID | 79147 |
| Full Name | fukutin related protein |
| Synonyms | FLJ12576, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5, MGC2991 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
19 19q13.32 |
| Summary | This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq]. |
| Disorder | MIM: 606596 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye |
| mRNA | NM_024301, 209574323 |
| Protein | NP_077277, 13236528 |
| Product | fukutin-related protein |
| RefSeq Status | REVIEWED |
| mRNA | NM_001039885, 209574324 |
| Protein | NP_001034974, 89941475 |
| Product | fukutin-related protein |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | FKRP | NP_001034974.1 |
| Pan troglodytes (chimpanzee) | FKRP | XP_001168265.1 |
| Canis lupus familiaris (dog) | FKRP | XP_541541.1 |
| Bos taurus (cattle) | FKRP | NP_001093184.1 |
| Mus musculus (house mouse) | Fkrp | NP_775606.1 |
| Rattus norvegicus (Norway rat) | Fkrp | NP_001020849.1 |
| Gallus gallus (chicken) | FKRP | XP_429063.2 |
| Danio rerio (zebrafish) | fkrp | NP_001036154.1 |
| Drosophila melanogaster (fruit fly) | CG15651 | NP_611531.2 |
| ID | Name | Evidence |
| GO:0009101 | glycoprotein biosynthetic process | IEA |
| GO:0016485 | protein processing | IEA |
Component
| ID | Name | Evidence |
| GO:0005576 | extracellular region | IEA |
| GO:0005615 | extracellular space | IDA |
| GO:0005791 | rough endoplasmic reticulum | IDA |
| GO:0005794 | Golgi apparatus | IDA |
| GO:0016010 | dystrophin-associated glycoprotein complex | IEA |
| GO:0042383 | sarcolemma | IEA |
Function
| ID | Name | Evidence |
| GO:0016740 | transferase activity | IEA |
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