Tubulin Tyrosine Ligase-Like 9

Alternative Names

  • TTLL9
  • Chromosome 20 Open Reading Frame 125
  • C20orf125

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

619838

NCBI Gene ID

164395

Uniprot ID

Q3SXZ7

Length

74,367 bases

No. of Exons

22

No. of isoforms

3

Protein Name

Probable tubulin polyglutamylase TTLL9

Molecular Mass

51472 Da

Amino Acid Count

439

Genomic Location

chr20:31,870,634-31,945,000

Gene Map Locus
20q11.21

Description

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within flagellated sperm motility. Predicted to be located in ciliary basal body; cytoplasm; and microtubule. Predicted to be active in cilium. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001008409.5:c.749-1G>CSaudi ArabiaNC_000020.11:g.31933799G>CLikely PathogenicSpermatogenic Failure 1NM_001008409.5:c.749-1G>C183276502
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