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ABCA12 (GeneName), ATP-binding cassette sub-family A member 12 (ProteinName), ABCAC_HUMAN.
Product Name:

Human ABCA12/ ATP-binding cassette sub-family A member 12 ELISA Kit

Cat.#:
-
Brand:
EIAab®
Regulatory Status:
Alternative:

ATP-binding cassette transporter 12, ATP-binding cassette 12, ABC12

Detection Method:
ELISA
Specificity:
Natural and recombinant human ATP-binding cassette sub-family A member 12
Sample Type:
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
Sample Data:
Research Area:
-
Human ABCA12 ELISA Kit
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Human ABCA12 ELISA Kit
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Product Datasheets


General Annotation


Sub Unit:
N/A


Function:
Probable transporter involved in lipid homeostasis.


Subcellular Location:
Membrane Multi-pass membrane protein


This product has not yet been referenced specifically in any publications.

[1].
"Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2."

[2].
"ABCA12 is the major harlequin ichthyosis gene."

[3].
"Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis."

[4].
"Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34."

[5].
"Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12."
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