MYO18B gene

myosin XVIIIB

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism

From UniProt:

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. [MIM:616549]

Cytogenetic Location: 22q12.1, which is the long (q) arm of chromosome 22 at position 12.1

Molecular Location: base pairs 25,742,133 to 26,063,847 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q12.1, which is the long (q) arm of chromosome 22 at position 12.1