Sialic Acid Storage Disease

A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia. (NCI Thesaurus)

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Sialic acid

Any of a group of simple sugar molecules.

Sialate O-Acetylesterase

Sialate O-acetylesterase (523 aa, ~58 kDa) is encoded by the human SIAE gene. This protein plays a role in the removal of…

Sialadenitis

An acute or chronic inflammatory process affecting a salivary gland. Signs and symptoms include pain and tenderness in the affected area. …

SIAH2 wt Allele

Human SIAH2 wild-type allele is located in the vicinity of 3q25 and is approximately 22 kb in length. This allele, which encodes…

SIAH2 Gene

This gene plays a role in the regulation of protein degradation.

SIAE wt Allele

Human SIAE wild-type allele is located in the vicinity of 11q24 and is approximately 38 kb in length. This allele, which encodes…