TTLL5 Antibody

1. 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 PMID: 28356705
2. 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. PMID: 28173158
3. 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. PMID: 24791901
4. 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. PMID: 20374646
5. STAMP is an important new, downstream component of GR action in both gene activation and gene repression. PMID: 17116691

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HGNC: 19963

OMIM: 612268

KEGG: hsa:23093

STRING: 9606.ENSP00000298832

UniGene: Hs.709609