Anti -ATP2C1, CT (ATP2C1, KIAA1347, PMR1L, Calcium-transporting ATPase type 2C member 1, ATP-dependent Ca(2+) pump PMR1)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 3; NC_000003.11 (130569327..130735556). Location: 3q22.1

Polyclonal

IgG

Rabbit

Human

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-ATP2C1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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 the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.

Antibodies; Abs to Ion Channel

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in Western Blot, ELISA
Dilution: ELISA: 1:1,000
Western Blot: 1:100-500

100,577 Da[Similar Products]

ATPase, Ca++ transporting, type 2C, member 1

calcium-transporting ATPase type 2C member 1; HUSSY-28; ATPase 2C1; ATPase, Ca(2+)-sequestering; ATP-dependent Ca(2+) pump PMR1; secretory pathway Ca2+/Mn2+ ATPase 1

Calcium-transporting ATPase type 2C member 1

KIAA1347; PMR1L; ATPase 2C1??[Similar Products]

AT2C1_HUMAN

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. [provided by RefSeq, Aug 2011]

ATP2C1: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in ATP2C1 are the cause of Hailey-Hailey disease (HHD); also known as benign familial pemphigus. HHD is an autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; Membrane protein, integral; Transporter; Transporter, ion channel; EC 3.6.3.8; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 3q22.1

Cellular Component: Golgi membrane; Golgi apparatus; membrane; integral to membrane; trans-Golgi network

Molecular Function: manganese-transporting ATPase activity; signal transducer activity; calcium-transporting ATPase activity; manganese ion binding; metal ion binding; calcium ion binding; ATP binding

Biological Process: cellular calcium ion homeostasis; Golgi calcium ion homeostasis; epidermis development; positive regulation of I-kappaB kinase/NF-kappaB cascade; metabolic process; calcium ion transport; actin cytoskeleton reorganization; calcium-dependent cell-cell adhesion; manganese ion transport; cellular manganese ion homeostasis; signal transduction; Golgi calcium ion transport; transmembrane transport

Disease: Benign Chronic Pemphigus

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