Q8K480
uniprot
Q8K480
canonical
amino_acid_sequence
MKDYDDVILRPEASELSKTEFCNPAFDPEAGPSCPPPALQRDVGSRLQAPWHAQRLRGLQPDCHFSWFCILLLSGLLLLLLGLLVAVILAQLQATSLPRTTKNPLLTRGLTPMGVIPSTTPNTTTTTTTTTPARTGQQEAAMSPTHQTTCGGLLPGPSGFFSSPNYPDLYPPLSHCVWHIQVAAGQTIQLKIQALSIESMLTCLFDRLEIISEPTGPLLRVCGKTPPATLNTNTSHLRVSFVSDNDVEGSGFQAWYQAVAPGHWSCAHNEFHCDLLLCLKRDSVCDGITECADGSDEANCSAKTLGCGGNLTGLYGVFSTPNYPQHYPHQQLCTWYIEVPVGYGIRLEFHNFSLEAQAECKFDYVEVYEASNLGTFSFLGRFCGAEPPLNVVSSMHQLAVIFKTDLGISSGGFLATYQAINTTESGCPWAEFCQSGGYRDLQWMCDLWKDCANDSNDNCSSHLSPQPDLTCEPVQVEMCLGLSYNTTAFPNIWVGLATQTEVTDILRGYKSLTSLPCYQTFQRFLCGLLVPRCTSLGTILPPCRSVCQAAEQQCQSSLALLGTPWPFNCNRLPVAASLEACSQP
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Mfrp are the cause of retinal degeneration 6 (RD6). RD6 is an autosomal recessive degeneration of the photoreceptors causing dysfunction of both rods and cones. {ECO:0000269|PubMed:12140190}.
uniprot
proteins
function
FUNCTION: May play a role in eye development.
uniprot
proteins
mass_dalton
63669
uniprot
proteins
pubmed
12140190
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17122143
uniprot
proteins
sequence_length
584
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:17122143}; Single-pass type II membrane protein {ECO:0000269|PubMed:17122143}.
uniprot
proteins
transmembrane_region
TRANSMEM 70..90; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins