FKTN_MOUSE Q8R507
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UniProt:Q8R507
Recommended name:Fukutin
EC number:EC 2.4.2.-
Alternative names:(Fukuyama-type congenital muscular dystrophy protein) (Ribitol-5-phosphate transferase)
Cleaved into:
GeneID:246179
Gene names (primary ):Fktn
Gene names (synonym ):Fcmd
Gene names (ORF ):
Length:461
Mass:53579
Sequence:MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSARNGPGSSKSKGNRVGFDSTQWRAVKKFIMLTSSQNVPVFLIDPWILESINKNFEQVKNASQGPASECRFFCVPRDFTAFALQYHLWKNEDGWFRIAENMGFQCLKTESKDPRLDGIDSLSGTEIPLHYVCKLTTHAIHLVVFHERSGNYLWHGHLRLKGHMDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLDMLIPKDPGRFLEEVPHSRFIECRYKEARAFLQQYIDDNTVDAMVFRKRAKELLQLAAKTLKDLGVPFWLSSGTCLGWYRQCGIIPYSKDVDLGIFIQDYKPDIILAFQEAGLPLKHKFGKVEDSLELSFQGKNDVKLDIFFFYEEADHLWNGGTQARTGKKFKYLFPKFTLCWTEFVDIKVHVPCETVDYIEANYGKTWKIPIKTWDWKSSPPNVQPNGIWPISEWDEVIQLY
Tissue specificity:Expressed in the retina, with highest levels found in the inner segments of photoreceptors and the outer plexiform layer (at protein level) (PubMed:29416295). Expressed at lower levels in the inner and outer nuclear layers, the inner plexiform layers, and the ganglion cell layers of the retina (at protein level) (PubMed:29416295). Expressed in the heart, brain, spleen, lung, liver, skeletal muscle, kidney and testis (PubMed:12471058, PubMed:12408965). {ECO:0000269|PubMed:12408965, ECO:0000269|PubMed:12471058, ECO:0000269|PubMed:29416295}.
Induction:
Developmental stage:Wide distribution of expression throughout embryonic development, most predominantly in the central and peripheral nervous systems. High expression in the ventricular zone of proliferating neurons at 13.5 dpc. Broadly expressed in late embryonic and early postnatal cerebellar neurons, including premigratory granule neurons of the external granule cell layer. Expression is maintained in neurons of the internal granule cell layer after migration is complete. Intense expression in Purkinje cells throughout development. A unique pattern of intense expression in irregularly spaced cell bodies that do not appear to correlate with known parasagittal stripes. Expressed in Bergmann glial scaffolds used by granule cells during early posnatal radial migration. {ECO:0000269|PubMed:12670716}.
Protein families:LicD transferase family