Mouse Anti-PCYT1A Recombinant Antibody (6E6) (CBMAB-P1115-YC)

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Basic Information

Host Animal
Mouse
Clone
6E6
Application
ELISA, IF, WB
Immunogen
PCYT1A (NP_005008, 2-90 aa) partial recombinant protein with GST tag. Immunogen sequence: DAQCSAKVNA RKRRKEAPGP NGATEEDGVP SKVQRCAVGL RQPAPFSDEI EVDFSKPYVR VTMEEASRGT PCERPVRVYA DGIFDLFHS
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
aa 2-90
More Infomation

Target

Full Name
phosphate cytidylyltransferase 1, choline, alpha
Introduction
PCYT1A belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy.
Entrez Gene ID
UniProt ID
Alternative Names
Phosphate Cytidylyltransferase 1, Choline, Alpha; Phosphate Cytidylyltransferase 1, Choline, Alpha Isoform; CTP:Phosphocholine Cytidylyltransferase A; Phosphorylcholine Transferase A; EC 2.7.7.15; CCT-Alpha; CCT A; PCYT1; CTPCT;
Function
Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.
Biological Process
CDP-choline pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Phosphatidylcholine biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Cellular Location
Cytoplasm, cytosol
Membrane
Endoplasmic reticulum
Nucleus
It can interconvert between an inactive cytosolic form and an active membrane-bound form.
Involvement in disease
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD):
A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction.
PTM
The serine residues of the C-terminus are phosphorylated. The inactive soluble form is stabilized by phosphorylation, the active membrane bound form is promoted by anionic lipids or diacylglycerol, and is stabilized by dephosphorylation (By similarity).
Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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