Tubulin Tyrosine Ligase-like Family, Member 5

Alternative Names

  • TTLL5
  • Tubulin Tyrosine Ligase-like Family, Member 5
  • SRC1 and TIF2 Associated Binding Protein
  • STAMP
  • KIAA0998

Associated Diseases

Cone-Rod Dystrophy 19
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OMIM Number

612268

NCBI Gene ID

23093

Uniprot ID

Q6EMB2

Length

321,458 bases

No. of Exons

32

No. of isoforms

3

Protein Name

Tubulin Polyglutamylase TTLL5

Molecular Mass

143577 Da

Amino Acid Count

1281

Genomic Location

chr14:75,661,245-75,955,078

Gene Map Locus
14q24.3

Description

This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015072.4:c.1039T>CSaudi Arabiachr14:75720700Uncertain SignificanceCone-Rod Dystrophy 19NG_016974.1:g.64493T>C; NM_015072.4:c.1039T>C; NP_055887.3:p.Phe347Leu
NM_015072.5:c.(?_1282)_(2986_?)delUnited Arab EmiratesNC_000014.9:g.(?_75745095)_(75783530_?)delPathogenicCone-Rod Dystrophy 19NG_016974.1:g.(?_88888)_(127323_?)del; NM_015072.5:c.(?_1282)_(2986_?)del
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