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The calcium pump SPCA1 regulates proteases within the trans-Golgi network that require calcium for their activity and are critical for virus glycoprotein maturation.
the functional coupling between SPCA1 and Orai1 increases cytosolic and intraluminal Ca(2+) levels, representing a novel mechanism of store-independent Ca(2+) entry that may be affected in Hailey-Hailey disease.
We examined 2 familial and 2 sporadic cases of Hailey-Hailey Disease. Genomic DNA polymerase chain reaction and direct sequencing of the ATP2C1 were performed from HHD patients, unaffected family members, and 200 healthy individuals.We detected 3 heterozygous mutations, including 2 novel frameshift mutations (c.819insA (273LfsX) and c.1264insTAGATGG (421LfsX)) and 1 recurrent nonsense mutation (c.115C>T (R39X)).
results indicate that an ATP2C1/NOTCH1 axis might be critical for keratinocyte function and cutaneous homeostasis, suggesting a plausible model for the pathological features of Hailey-Hailey disease
Studies indicate that Darier disease (DD) is caused by mutations in the ATP2A2 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+) -ATPases SPCA1 and SPCA2 are strongly induced under osteogenic conditions that elicit microcalcifications. SPCA 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 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 versus SPCA1a.
A heterozygous deletion mutation, c. 2445_2454del 10bp, p.Cys814Leu fs*7, was detected in all three Hailey-Hailey disease subjects. This mutation has not yet been described.
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.
we identified two causative genetic mutations responsible for Hailey-Hailey disease.
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
We speculate that a novel pathogenic mechanism involving SPCA1, p63, and IRF6 may play a role in the skin lesions occurring in HHD.
Data suggest that calcium ATPase ATP2C1 gene expression is influenced by an overlapping protein asteroid homolog 1 ASTE1 gene.
The CFL-1-dependent recruitment of actin to SPCA1 following calcium influx is critical for secretory cargo sorting.
Case Report: haploinsufficiency of ATP2C1 mutations is the causative mechanism of Hailey-Hailey disease.
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