Rabbit anti-Human FAM65B Polyclonal Antibody

Uniprot Id

Q9Y4F9

Target Species

Human

Target Name

RIPOR2

Target Full Name

Rho family-interacting cell polarization regulator 2

Target Function

Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization. Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration. Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion. Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear. Plays a role for maintaining the structural organization of the basal domain of stereocilia. Involved in mechanosensory hair cell function. Required for normal hearing.; Acts as an inhibitor of the small GTPase RHOA. Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation. Maintains naive T lymphocytes in a quiescent state.

Target Involvement

Deafness, autosomal recessive, 104 (DFNB104)

Target Subcellular Location

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, filopodium. Cell projection, stereocilium. Cell projection, stereocilium membrane. Apical cell membrane.; [Isoform 1]: Cytoplasm.; [Isoform 2]: Cytoplasm.

Target Protein Families

RIPOR family

Target Tissue Specificity

Expressed in primary fetal mononuclear myoblast. Expressed strongly in naive T lymphocytes. Expressed weakly in activated T lymphocytes (at protein level). Expressed in blood cells and adult tissues of hematopoietic origin, such as the secondary lymphoid

Target Synonyms

PL48; DFNA21; DIFF40; DIFF48; FAM65B; MYONAP; C6orf32; DFNB104

Target Background

This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients.