MYMX
entrez
101929726
canonical
uniprot
A0A1B0GTQ4
canonical
ensembl
ENSG00000262179
resolver
ensp
ENSP00000489797
resolver
ensp
ENSP00000490143
resolver
ensp
ENSP00000582831
resolver
ensp
ENSP00000774027
resolver
enst
ENST00000573382
resolver
enst
ENST00000576476
resolver
enst
ENST00000912772
resolver
genesymbol
MYMX
resolver
hgnc
HGNC:52391
resolver
uniprot
A0A223PZB9
resolver
uniprot_entry
MYMX_HUMAN
resolver
uniprot_sec
A0A223PZB9
resolver
amino_acid_sequence
MPTPLLPLLLRLLLSCLLLPAARLARQYLLPLLRRLARRLGSQDMREALLGCLLFILSQRHSPDAGEASRVDRLERRERLGPQK
uniprot
proteins
disease_involvement
DISEASE: Carey-Fineman-Ziter syndrome 2 (CFZS2) [MIM:619941]: An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis. {ECO:0000269|PubMed:35642635}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28569745, PubMed:35642635). Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK (By similarity). Acts by generating membrane stresses via its extracellular C-terminus, leading to drive fusion pore formation. Acts independently of MYMK (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity). {ECO:0000250|UniProtKB:Q2Q5T5, ECO:0000269|PubMed:28569745, ECO:0000269|PubMed:35642635}.
uniprot
proteins
mass_dalton
9607
uniprot
proteins
protein_family
MYMX family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
28569745
uniprot
proteins
pubmed
35642635
uniprot
proteins
sequence_length
84
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q2Q5T5}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q2Q5T5}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..25; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins