FGGY Summary

This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

FGGY Details

Gene Symbol : FGGY

Gene Name : FGGY carbohydrate kinase domain containing

Chromosome : CHR 1: 592,964,04-597,627,29

Locus : 1p32.1

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TCTN1 Summary

This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

TCTN1 Details

Gene Symbol : TCTN1

Gene Name : Tectonic family member 1

Chromosome : CHR 12: 110,614,026-110,649,129

Locus : 12q24.11

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