Q75NE6
uniprot
Q75NE6
canonical
amino_acid_sequence
MFCHVDVKISSKRYTWTKLPLNVPKLVLIYLQSHFVLFFFSMCQSIWERPAIGRATTSSASWMVGYDCLL
uniprot
proteins
disease_involvement
DISEASE: Feingold syndrome 2 (FGLDS2) [MIM:614326]: A syndrome characterized by microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable severity, and cutaneous syndactyly of the toes. {ECO:0000269|PubMed:21892160}. Note=The disease is caused by variants affecting the gene represented in this entry. Microdeletions encompassing the MIR17HG locus can be responsible of FGLDS2.
uniprot
proteins
mass_dalton
8163
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15126345
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16266980
uniprot
proteins
pubmed
21892160
uniprot
proteins
sequence_length
70
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..43; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins