DISEASES

Disease-gene associations mined from literature

Literature associating LRRC39 and congenital myasthenic syndrome 15

LRRC39 [ENSP00000480740]

Leucine-rich repeat-containing protein 39; Component of the sarcomeric M-band which plays a role in myocyte response to biomechanical stress. May regulate expression of other M-band proteins via an SRF-dependent pathway. Important for normal contractile function in heart.

Synonyms:  LRRC39,  LRRC39p,  hLRRC39,  Q96DD0,  Q96DD0p ...

Linkouts:  STRING  Pharos  UniProt