MFRP
entrez
83552
canonical
uniprot
Q9BY79
canonical
ensembl
ENSG00000235718
resolver
ensp
ENSP00000481824
resolver
genesymbol
MFRP
resolver
hgnc
HGNC:18121
resolver
uniprot
B0YJ36
resolver
uniprot
B0YJ37
resolver
uniprot
B4DHN8
resolver
uniprot
Q335M3
resolver
uniprot
Q96DQ9
resolver
uniprot_entry
MFRP_HUMAN
resolver
uniprot_sec
B0YJ36
resolver
uniprot_sec
B0YJ37
resolver
uniprot_sec
B4DHN8
resolver
uniprot_sec
Q335M3
resolver
uniprot_sec
Q96DQ9
resolver
amino_acid_sequence
MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLRPDCRFSWLCVLLLSSLLLLLLGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNYPDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSSVEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSGCGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAFNATENPCGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEACAQP
uniprot
proteins
disease_involvement
DISEASE: Nanophthalmos 2 (NNO2) [MIM:609549]: A form of nanophthalmos, a disorder of eye development characterized by extreme hyperopia and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. NNO2 inheritance is autosomal recessive. {ECO:0000269|PubMed:15976030}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269|PubMed:17167404}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in eye development. {ECO:0000269|PubMed:15976030}.
uniprot
proteins
mass_dalton
62212
uniprot
proteins
pubmed
11263980
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15976030
uniprot
proteins
pubmed
16123440
uniprot
proteins
pubmed
16352475
uniprot
proteins
pubmed
16442268
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17122143
uniprot
proteins
pubmed
17167404
uniprot
proteins
pubmed
24531000
uniprot
proteins
pubmed
26583794
uniprot
proteins
sequence_length
579
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 70..90; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins