MYO18B

The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]

Full Name

Myosin XVIIIB

Function

May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth.

Biological Process

Cardiac muscle cell development Source: Ensembl
In utero embryonic development Source: Ensembl
Vasculogenesis Source: Ensembl

Cellular Location

Nucleus
Cytoplasm
Other locations
sarcomere
Note: Punctate pattern in undifferentiated myoblasts. Nuclear, on primary cardiomyocytes and adult muscle. A partial sarcomeric location was found in some cardiomyocytes.

Involvement in disease

Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism (KFS4):
A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies.