FIGURE: 1 / 1
Immunogen sequence: VEFFRVVSEY RASLQQRMNP KQEEHAFESP PPPDVGGKDG LMDSTPALTP TEDLTPGSVE EAEEAEPDEE FKDAIEETHL VVLEDDEGAP CPAEDELALQ DNGFLSKNEV LRSKVSRLTE RLRKRYPTNN FGNCTGCSAT FSVLKKRRSC SNCGNSFCSR CCSFKVPKSS MGATAPEAQR ETVFVCASCN QTLSK; Positive Samples: Rat eye; Cellular Location: Cell membrane, Cell projection, Endoplasmic reticulum membrane, Multi-pass membrane protein, Recycling endosome membrane, growth cone membrane
This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear.
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Protein Aliases: Protrudin; RP11-459F3.2; Spastic paraplegia 33 protein; zinc finger FYVE domain containing 27; Zinc finger FYVE domain-containing protein 27; zinc finger, FYVE domain containing 27
Gene Aliases: PROTRUDIN; SPG33; ZFYVE27