DISEASES

Disease-gene associations mined from literature

Literature associating SACM1L and centronuclear myopathy X-linked

SACM1L [ENSP00000373713]

SAC1 suppressor of actin mutations 1-like (yeast); Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P). Has low activity towards PtdIns(3,5)P2 (By similarity).

Synonyms:  SACM1L,  SACM1Lp,  hSACM1L,  C9J3E3,  C9JV50 ...

Linkouts:  STRING  Pharos  UniProt  OMIM