|
Gene id |
23093 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TTLL5 Gene UCSC Ensembl |
|
Aliases |
CORD19, KIAA0998, STAMP |
|
Gene name |
tubulin tyrosine ligase like 5 |
|
Alternate names |
tubulin polyglutamylase TTLL5, SRC1 and TIF2 associated binding protein, SRC1 and TIF2-associated modulatory protein, tubulin tyrosine ligase-like family, member 5, |
|
Gene location |
14q24.3 (75661245: 75955078) Exons: 32 NC_000023.11
|
|
Gene summary(Entrez) |
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 c
|
|
OMIM |
612268 |
|
| Associated diseases |
References |
| Cone-rod dystrophy and cone dystrophy | KEGG: H00481 |
| Male subfertility | MIK: 28173158 |
| Required for sperm maturation and motility | MIK: 23558686 |
| Male subfertility | MIK: 28173158 |
| Required for sperm maturation and motility, Male infertility | MIK: 23558686 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28173158 |
Male subfe
rtility
|
p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys) |
|
8 patients from
6 families
|
Male infertility |
|
Show abstract |
| 23558686 |
Required f
or sperm m
aturation
and motili
ty, Male i
nfertility
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|