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SMS

This gene encodes a protein belonging to the spermidine/spermin synthase family. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene are associated with X-linked Snyder-Robinson mental retardation syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Syncytiotrophoblasts, Cytotrophoblasts, Distal tubular cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Homodimer. Dimerization is mediated through the N-terminal domain and seems to be required for activity as deletion of the N-terminal domain causes complete loss of activity.

Molecular function

Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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