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TTLL5 encodes a member of the tubulin tyrosine ligase like protein family. Additionally we are shipping and many more products for this protein.
Showing 10 out of 13 products:
Human Polyclonal TTLL5 Primary Antibody for IHC (p) - ABIN5590346
Sergouniotis, Chakarova, Murphy, Becker, Lenassi, Arno, Lek, MacArthur, Bhattacharya, Moore, Holder, Robson, Wolfrum, Webster, Plagnol: Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. in American journal of human genetics 2014
in a study of 3 family members from 2 generations, identified in a previously misdiagnosed incomplete congenital stationary night blindness (icCSNB) case a splice-site mutation in intron 3 of TTLL5 (c.182-3_182-1delinsAA); reinvestigation of the clinical data corrected the diagnosis to cone dystrophy
5 homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe) and p.(Glu543Lys)] in TTLL5, in 8 patients from 6 families were identified. 2 male patients carrying truncating TTLL5 variants also displayed a reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. TTLL has multiple viable isoforms, being highly expressed in retina, testis and spermatozoon flagellum.
this study has performed exome sequencing in 28 individuals with a similar disease phenotype and subsequently used a casecontrol approach to identify mutations in TTLL5 as a cause of recessive retinal dystrophy.
This study indicates that a physiological function of STAMP in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones.
STAMP is an important new, downstream component of GR action in both gene activation and gene repression.
Mouse models carrying truncating mutations in TTLL5 gene display reduced fertility in male animals.
study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these two genes into a common disease pathway.
STAMP appears to participate in a unique, tissue-selective TTLL-mediated pathway for alpha-tubulin polyglutamylation that is required for sperm maturation and motility and may be relevant for male fertility.
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. This protein may also function as an alpha tubulin polyglutamylase.
tubulin polyglutamylase TTLL5
, tubulin tyrosine ligase-like family, member 5
, tubulin--tyrosine ligase-like protein 5
, SRC1 and TIF2 associated binding protein
, SRC1 and TIF2-associated modulatory protein
, tubulin tyrosine ligase like family 5