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Studies indicate that Darier disease (DD) is caused by mutations in the ATP2A2 (Montrer ATP2A2 Protéines) gene, whereas the ATP2C1 gene is associated with Hailey-Hailey disease (HHD).
This article aims to critically discuss the clinical and pathological features of Hailey-Hailey disease, differential diagnoses, and genetic and functional studies of the ATP2C1 gene in Hailey-Hailey disease. [review]
review of the literature about the mutations occurring on the ATP2C1 gene and summarize how they are distributed along the gene and how missense mutations affect protein expression
The Secretory Pathway Ca(2 (Montrer CA2 Protéines)+) -ATPases SPCA1 and SPCA2 (Montrer ATP2C2 Protéines) are strongly induced under osteogenic conditions that elicit microcalcifications. SPCA (Montrer F7 Protéines) gene expression is significantly elevated in breast cancer subtypes that are associated with microcalcifications.
xpressing either wild-type or mutant forms of SLC30A10 was sufficient to inhibit the effect of ATP2C1 in response to Mn challenge in both zebrafish embryos and HeLa cells. These findings suggest that either activating ATP2C1 or restoring the Mn-induced trafficking of ATP2C1 can reduce Mn accumulation, providing a possible target for treating HMDPC.
SPCA1a is highly sensitive to the lipid environment and that several SERCA (Montrer ATP2A3 Protéines) inhibitors, including thapsigargin (Tg), also block SPCA1a activity, although at higher concentrations only. There were differences in the relative contribution of Tg side chains in the inhibition of SERCA1a (Montrer ATP2A1 Protéines) versus SPCA1a.
In this study, direct DNA sequencing was used to identify ATP2C1 gene mutations in four Chinese families and two sporadic cases with Hailey-Hailey disease.
Two novel ATP2C1 mutations have been found in two unrelated Chinese patients with Hailey-Hailey disease pedigree.
Besides the level of functional ATP2C1 protein, levels of other ATPase proteins may influence expressivity of the disease and may also contribute to atypical presentations in three male members of the Hailey Hailey disease family.
This is the first genetic report of HHD from Lebanon in which we identified three novel mutations in ATP2C1 and shed light on the molecular mechanisms and pathogenesis of HHD by linking stress signals like heat shock to the observed phenotypes
The timing, magnitude of TMEM165 expression and its Golgi location supports a role for this Golgi Ca2 (Montrer CA2 Protéines)+/H+ antiporter as a contributor to mammary Golgi calcium transport needs, in addition to the better-characterized roles of SPCA 1 and 2.
loss of the Golgi Ca(2 (Montrer CA2 Protéines)+) pump causes Golgi stress, expansion of the Golgi, increased apoptosis, and embryonic lethality and demonstrates that SPCA1 haploinsufficiency causes a genetic predisposition to cancer.
The synthesized siPMR1 can significantly silence the expression of PMR1 and promote the secretion of insulin (Montrer INS Protéines) in the islet cells in vitro.
Impaired cellular divalent calcium ion Ca2 (Montrer CA2 Protéines)+ homeostasis and/or the altered targeting of organellar proteins under conditions of SPCA1 knockdown highlight the importance of SPCA1 function for normal neural differentiation.
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.
ATPase, Ca++ transporting, type 2C, member 1
, ATPase 2C1
, Calcium-transporting ATPase type 2C member 1
, calcium-transporting ATPase type 2C member 1-like
, ATP-dependent Ca(2+) pump PMR1
, ATPase, Ca(2+)-sequestering
, calcium-transporting ATPase type 2C member 1
, secretory pathway Ca2+/Mn2+ ATPase 1
, ATPase, Ca++-sequestering
, calcium-transporting ATPase 2C1
, secretory pathway Ca(2+)-ATPase 1
, secretory pathway Ca(2+)-transporting ATPase