STXBP5L Summary

The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]

STXBP5L Details

Gene Symbol : STXBP5L

Gene Name : Syntaxin binding protein 5 like

Chromosome : CHR 3: 120,908,202-121,424,760

Locus : 3q13.33

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TNIK Summary

Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

TNIK Details

Gene Symbol : TNIK

Gene Name : TRAF2 and NCK interacting kinase

Chromosome : CHR 3: 171,460,407-171,058,413

Locus : 3q26.2-q26.31

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