DISEASES

Disease-gene associations mined from literature

Literature associating TMED1 and Noonan syndrome 1

TMED1 [ENSP00000214869]

Transmembrane emp24 domain-containing protein 1; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side.

Synonyms:  TMED1,  TMED1p,  hTMED1,  K7EIN4,  K7EIR1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM