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 ...