Cell Biology Antibodies 13

Anti-ABCA12 Antibody (CAB17680)

(No reviews yet) Write a Review
SKU:
CAB17680
Product Type:
Antibody
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

system_update_altDatasheetsystem_update_altMSDS
Antibody Name:Anti-ABCA12 Antibody
Antibody SKU:CAB17680
Antibody Size:20uL, 50uL, 100uL
Application:IF
Reactivity:Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 2456-2595 of human ABCA12 (NP_775099.2).
Application:IF
Recommended Dilution:IF 1:50 - 1:200
Reactivity:Mouse
Positive Samples:
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 2456-2595 of human ABCA12 (NP_775099.2).
Purification Method:Affinity purification
Storage Buffer:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:CTRL AIMV NGKF QCIG SLQH IKSR FGRG FTVK VHLK NNKV TMET LTKF MQLH FPKT YLKD QHLS MLEY HVPV TAGG VANI FDLL ETNK TALN ITNF LVSQ TTLE EVFI NFAK DQKS YETA DTSS QGST ISVD SQDD QMES
Gene ID:26154
Uniprot:Q86UK0
Cellular Location:
Calculated MW:
Observed MW:Refer to figures
Anti-ABCA12 Antibody (CAB17680)Immunofluorescence - ABCA12 Rabbit pAb (CAB17680)
Synonyms:ARCI4A, ARCI4B, ICR2B, LI2, ABCA12
Background:The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
UniProt Protein Function:ABCA12: Probable transporter involved in lipid homeostasis. ABCA12 mutations are a cause of different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non- bullous congenital ichthyosiform erythroderma (NCIE). HI shows the most severe phenotype. NCIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. Defects in ABCA12 are the cause of ichthyosis harlequin (HI). A very severe skin disorder in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2). A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Defects in ABCA12 are a cause of erythroderma, ichthyosiform, congenital non-bullous (NCIE). A non- bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Belongs to the ABC transporter superfamily. ABCA family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Transporter; Membrane protein, multi-pass; Membrane protein, integral; Transporter, ABC family; Mitochondrial

Chromosomal Location of Human Ortholog: 2q34

Cellular Component: cytoplasm; mitochondrial inner membrane; plasma membrane; integral to membrane; cytosol

Molecular Function:lipid transporter activity; lipid-transporting ATPase activity; protein binding; apolipoprotein A-I receptor binding; ATP binding; receptor binding

Biological Process: regulated secretory pathway; phospholipid efflux; metabolic process; keratinization; lipid homeostasis; cellular homeostasis; lipid transport; alveolus development; surfactant homeostasis; secretion by cell

Disease: Ichthyosis, Congenital, Autosomal Recessive 4b; Ichthyosis, Congenital, Autosomal Recessive 4a

NCBI Summary:The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
UniProt Code:Q86UK0
NCBI GenInfo Identifier:269849713
NCBI Gene ID:26154
NCBI Accession:Q86UK0.3
UniProt Secondary Accession:Q86UK0,Q53QE2, Q53S55, Q8IZW6, Q96JT3, Q9Y4M5,
UniProt Related Accession:Q86UK0
Molecular Weight:256,960 Da
NCBI Full Name:ATP-binding cassette sub-family A member 12
NCBI Synonym Full Names:ATP-binding cassette, sub-family A (ABC1), member 12
NCBI Official Symbol:ABCA12  
NCBI Official Synonym Symbols:LI2; ICR2B; ARCI4A; ARCI4B  
NCBI Protein Information:ATP-binding cassette sub-family A member 12; ATP-binding cassette transporter 12
UniProt Protein Name:ATP-binding cassette sub-family A member 12
UniProt Synonym Protein Names:ATP-binding cassette transporter 12; ATP-binding cassette 12
Protein Family:ABC transporter A family
UniProt Gene Name:ABCA12  
UniProt Entry Name:ABCAC_HUMAN
View AllClose

0 Reviews

View AllClose

Related Products