Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2.
基因功能參考文獻:
RTTN directly interacts with STIL and acts downstream of STIL-mediated centriole assembly, contributing to building full-length centrioles. PMID: 28811500
We found a novel homozygous mutation in RTTN associated with microcephalic PD as well as complex brain malformations and congenital dermatitis, thus expanding the phenotypic spectrum of both RTTN-associated diseases and ciliary dysfunction. PMID: 26940245
RTTN mutations cause primary microcephaly and primordial dwarfism in humans. PMID: 26608784
RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals. PMID: 22939636
Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP)
亞細胞定位:
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with the basal bodies at the primary cilium.