DISEASES

Disease-gene associations mined from literature

Literature associating MID1IP1 and Opitz-GBBB syndrome

MID1IP1 [ENSP00000483547]

Gastrulation-specific G12-like protein; Plays a role in the regulation of lipogenesis in liver. Up-regulates ACACA enzyme activity. Required for efficient lipid biosynthesis, including triacylglycerol, diacylglycerol and phospholipid. Involved in stabilization of microtubules (By similarity); Belongs to the SPOT14 family.

Synonyms:  MID1IP1,  MID1IP1p,  hMID1IP1,  Q9NPA3,  MIG12 ...

Linkouts:  STRING  Pharos  UniProt