Human Sparc-related Modular Calcium-binding Protein 2, SMOC2 ELISA Kit, 96T Reagent Reservoirs Mutations in this gene cause

Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA)

It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion

The protein is an S-type cystatin

One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth

Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed: 18957423)

Human Sparc-related Modular Calcium-binding Protein 2, SMOC2 ELISA Kit, 96T Reagent Reservoirs Mutations in this gene cause