ABCA12 ELISA Kit for Human(Homo sapiens) | EIAab.comABCA12 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > ABCA12(Gene name) > Human

ABCA12 (Gene name),

ATP-binding cassette sub-family A member 12 (Protein name ), ABCAC_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

ABCA12(ABC12);

Protein name:

ATP-binding cassette sub-family A member 12;

Alternative:

ATP-binding cassette transporter 12(ATP-binding cassette 12);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Probable transporter involved in lipid homeostasis.

Subcellular Location:

Membrane Multi-pass membrane protein

Protein Attributes:

Sequence length:

2595

Sequence:

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2550:

2595:

FLVSQTTLEE | VFINFAKDQK | SYETADTSSQ | GSTISVDSQD | DQMES

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

Q86UK0

STRING:

9606.ENSP00000272895

UniGene:

Hs.134585

Pfam:

PF00005

SMR:

Q86UK0

MIM:

242500

KEGG:

hsa:26154

Uniprot:

Q86UK0

FOR

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

CLIA Kit for Human ATP-binding cassette sub-family A member 12

Polyclonal Antibody for Human ATP-binding cassette sub-family A member 12

Monoclonal Antibody for Human ATP-binding cassette sub-family A member 12

Protein for Human ATP-binding cassette sub-family A member 12

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34."
Annilo T. , Shulemin S. , Chen Z.Q. , Arnould I. , Prades C. , Lemoine C. , Maintoux-Larois C. , Devaud C. , Dean M. , Denefle P. , Rosier M.
Cytogenet. Genome Res.98:169-176(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);TISSUE SPECIFICITY;VARIANT THR-777
tissue: Placenta.
2.

"A retinal cDNA for the ATP-binding cassette transporter ABCA12."
Bonner T.I. , Moses T. , Detera-Wadleigh S.
Submitted (2001-04) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2);VARIANT THR-777
tissue: Retina.
3.

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
4.

"Cloning of a novel ABC transporter (ABCA12) tentatively involved in lipid homeostatis."
Schaap F.G. , van Wijland M. , Groen A.K.
Submitted (2001-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 221-2595;VARIANT THR-777
5.

"The full-ORF clone resource of the German cDNA consortium."
Bechtel S. , Rosenfelder H. , Duda A. , Schmidt C.P. , Ernst U. , Wellenreuther R. , Mehrle A. , Schuster C. , Bahr A. , Bloecker H. , Heubner D. , Hoerlein A. , Michel G. , Wedler H. , Koehrer K. , Ottenwaelder B. , Poustka A. , Wiemann S. , more...
BMC Genomics8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2400-2595
tissue: Testis.
6.

"ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts."
Akiyama M.
Hum. Mutat.31:1090-1096(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS;INVOLVEMENT IN ARCI
7.

"Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2."
Lefevre C. , Audebert S. , Jobard F. , Bouadjar B. , Lakhdar H. , Boughdene-Stambouli O. , Blanchet-Bardon C. , Heilig R. , Foglio M. , Weissenbach J. , Lathrop M. , Prud'homme J.F. , Fischer J.
Hum. Mol. Genet.12:2369-2378(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARCI4A SER-1380; GLU-1381; HIS-1514; LYS-1539 AND SER-1651
8.

"Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis."
Kelsell D.P. , Norgett E.E. , Unsworth H. , Teh M.-T. , Cullup T. , Mein C.A. , Dopping-Hepenstal P.J. , Dale B.A. , Tadini G. , Fleckman P. , Stephens K.G. , Sybert V.P. , Mallory S.B. , North B.V. , Witt D.R. , Sprecher E. , Taylor A.E.M. , Ilchyshyn A. , more...
Am. J. Hum. Genet.76:794-803(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARCI4B ASN-2365
9.

"Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity."
Akiyama M. , Sakai K. , Sugiyama-Nakagiri Y. , Yamanaka Y. , McMillan J.R. , Sawamura D. , Niizeki H. , Miyagawa S. , Shimizu H.
J. Invest. Dermatol.126:1518-1523(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARCI4B ASN-387
10.

"ABCA12 is the major harlequin ichthyosis gene."
Thomas A.C. , Cullup T. , Norgett E.E. , Hill T. , Barton S. , Dale B.A. , Sprecher E. , Sheridan E. , Taylor A.E. , Wilroy R.S. , DeLozier C. , Burrows N. , Goodyear H. , Fleckman P. , Stephens K.G. , Mehta L. , Watson R.M. , Graham R. , more...
J. Invest. Dermatol.126:2408-2413(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARCI4B ARG-1179
11.

"Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia."
Natsuga K. , Akiyama M. , Kato N. , Sakai K. , Sugiyama-Nakagiri Y. , Nishimura M. , Hata H. , Abe M. , Arita K. , Tsuji-Abe Y. , Onozuka T. , Aoyagi S. , Kodama K. , Ujiie H. , Tomita Y. , Shimizu H.
J. Invest. Dermatol.127:2669-2673(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARCI4A PRO-345 AND THR-1494
12.

"Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma."
Akiyama M. , Sakai K. , Hatamochi A. , Yamazaki S. , McMillan J.R. , Shimizu H.
Br. J. Dermatol.158:864-867(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARCI4A ASP-1136
13.

"Core signaling pathways in human pancreatic cancers revealed by global genomic analyses."
Jones S. , Zhang X. , Parsons D.W. , Lin J.C. , Leary R.J. , Angenendt P. , Mankoo P. , Carter H. , Kamiyama H. , Jimeno A. , Hong S.M. , Fu B. , Lin M.T. , Calhoun E.S. , Kamiyama M. , Walter K. , Nikolskaya T. , Nikolsky Y. , more...
Science321:1801-1806(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-476
14.

"ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."
Sakai K. , Akiyama M. , Yanagi T. , McMillan J.R. , Suzuki T. , Tsukamoto K. , Sugiyama H. , Hatano Y. , Hayashitani M. , Takamori K. , Nakashima K. , Shimizu H.
J. Invest. Dermatol.129:2306-2309(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARCI4A SER-1235; HIS-1514; LEU-1798 AND LYS-1980
15.

"Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12."
Nawaz S. , Tariq M. , Ahmad I. , Malik N.A. , Baig S.M. , Dahl N. , Klar J.
Eur. J. Dermatol.22:178-181(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARCI4A VAL-1559

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