Disease relevance of nma

• Neuromuscular ataxia, nma, is a new autosomal recessive mutation that arose spontaneously in CBA/J inbred mice at The Jackson Laboratory. The mutation, now maintained on the B6C3FeF(1) hybrid background, when homozygous, causes small size, uncoordinated gait, dysmetria, dystonia, general weakness, and death shortly after weaning [1].
• Expression of nma, a novel gene, inversely correlates with the metastatic potential of human melanoma cell lines and xenografts [2].

High impact information on nma

• Whereas nma is not expressed in normal skin tissue, expression is high in melanocytes and in 3 out of 11 melanoma metastases tested [2].
• Fluorescence in situ hybridization combined with the analysis of a panel of human-rodent somatic cell hybrids indicated that the nma gene is located on human chromosome 10, in the region p11.2-p12 [2].
• Expression of nma is high in human kidney medulla, placenta and spleen, low in kidney cortex, liver, prostate and gut and absent in lung and muscle [2].
• The predicted amino acid sequence suggests that the protein encoded by nma contains a transmembrane domain [2].

Analytical, diagnostic and therapeutic context of nma

• 3. Sequence analysis of nma showed no homologies with other known genes or proteins, except for several partially sequenced cDNAs [2].

References