DISEASES

Disease-gene associations mined from literature

Literature associating NEBL and endocardial fibroelastosis

NEBL [ENSP00000366326]

Actin-binding Z-disk protein; Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres. Isoform 2 might play a role in the assembly of focal adhesion; LIM domain containing

Synonyms:  NEBL,  B7ZB56,  NEBL-001,  NEBL-002,  NEBL-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM