GPSM2 Antibody – Goat Polyclonal

The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82).[provided by RefSeq, Jan 2011]

Function: Plays an important role in spindle pole orientation. Interacts and contributes to the functional activity of G(i) alpha proteins. Acts to stabilize the apical complex during neuroblast divisions. Ref.8

Subunit structure: Interacts with LLGL2. Interacts with INSC/inscuteable and probably with F2RL2. Ref.8 Ref.9

Subcellular location: Cytoplasm. Cytoplasm › cell cortex. Note: Localizes in the cytoplasm in the interphase and at cell periphery in the metaphase. Ref.8

Tissue specificity: Ubiquitously expressed.

Involvement in disease: Chudley-McCullough syndrome (CMCS) [MIM:604213]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.13

Miscellaneous: Dysfunction of LGN is associated with the phenotype of multiple micronuclei due to chromosomal mis-segregation and defect in cell division through mis-localization of mitotic splindle regulator protein NuMA.

Sequence similarities: Belongs to the GPSM family.Contains 4 GoLoco domains.Contains 8 TPR repeats.

Caution: It is uncertain whether Met-1 or Met-8 is the initiator.Mutations in GPSM2 have been identified in people with profound congenital non-syndromic deafness designated as DFNB82 (Ref.11). Subsequent brain imaging of these individuals has revealed frontal polymicrogyria, abnormal corpus callosum, and gray matter heterotopia, consistent with a diagnosis of Chudley-McCullough syndrome (Ref.13).

Sequence caution: The sequence AAB40385.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence AAH27732.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.