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SBIDDS

Chr 16

protein arginine methyltransferase 7

Also known as: SBIDDS

NCBI Gene: 54496

The protein encoded by this gene is a methyltransferase that transfers methyl groups to arginine residues on histone proteins and other substrates, playing roles in neuronal differentiation, gene regulation, and Wnt signaling. Autosomal recessive mutations cause a syndrome characterized by short stature, brachydactyly (short fingers), intellectual disability, and seizures. This represents a multisystem disorder affecting growth, skeletal development, cognition, and neurological function.

ResearchSummary from RefSeq, OMIM

This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)