METTL27
entrez
155368
canonical
uniprot
Q8N6F8
canonical
ensembl
ENSG00000165171
resolver
ensp
ENSP00000297873
resolver
ensp
ENSP00000536896
resolver
ensp
ENSP00000536898
resolver
enst
ENST00000297873
resolver
enst
ENST00000866839
resolver
genesymbol
METTL27
resolver
genesymbol_syn
WBSCR27
resolver
hgnc
HGNC:19068
resolver
uniprot_entry
MET27_HUMAN
resolver
amino_acid_sequence
MAQEEGGSLPEVRARVRAAHGIPDLAQKLHFYDRWAPDYDQDVATLLYRAPRLAVDCLTQALPGPPHSALILDVACGTGLVAAELRAPGFLQLHGVDGSPGMLEQAQAPGLYQRLSLCTLGQEPLPSPEGTFDAVLIVGALSDGQVPCNAIPELHVTKPGGLVCLTTRTNSSNLQYKEALEATLDRLEQAGMWEGLVAWPVDRLWTAGSWLPPSWRWYPASLPRMASSPALSTCTESGRRPRLRK
uniprot
proteins
disease_involvement
DISEASE: Note=METTL27 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of METTL27 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269|Ref.1}.
uniprot
proteins
mass_dalton
26522
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18398435
uniprot
proteins
sequence_length
245
uniprot
proteins