Disease-gene associations mined from literature

Literature associating NEFH and progressive bulbar palsy

NEFH [ENSP00000311997]

Neurofilament heavy polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.

Synonyms:  NEFH,  P12036,  P12036p,  hP12036,  200 kDa neurofilament protein ...

Linkouts:  STRING  Pharos  UniProt  OMIM