Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :22257947
Publication Date : //

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


A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). Disruption of ABCA12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum. We have identified a large consanguineous Pakistani family affected by NCIE. Autozygosity mapping showed that affected individuals are homozygous for the ABCA12 gene region. Subsequent mutation screening revealed a homozygous c.4676G>T transition in all five affected family members. The mutation results in a novel p.G1559V substitution within the first nucleotide binding domain of ABCA12. The combined results support that an ABCA12 missense mutation, despite its location in a functional domain, may be associated with a mild ichthyosis phenotype. Furthermore, our findings increase the mutational spectrum in ABCA12 associated with ARCI of diagnostic and prognostic importance.

Authors : Nawaz Sadia , Tariq Muhammad , Ahmad Ilyas , Malik Naveed Altaf , Baig Shahid Mahmood , Dahl Niklas , Klar Joakim ,

Related products :

Catalog number Product name Quantity
ICR4 ICR1 Gene ichthyosis congenita I, erythromatous lamellar ichthyosis, ichthyosiform erythroderma
26-258 FOXD4 contains 1 fork-head DNA-binding domain. The W148R mutation in the forkhead domain of FOXD4, possibly resultsin reduced DNA binding capacity and altered transcriptional activity. 0.05 mg
EIAAB12225 230 kDa bullous pemphigoid antigen,230_240 kDa bullous pemphigoid antigen,BP230,BP240,BPA,BPAG1,Bullous pemphigoid antigen,Bullous pemphigoid antigen 1,DMH,DST,DT,Dystonia musculorum protein,Dystonin,
CSB-EL001036HU Human ATP-binding cassette sub-family A member 12(ABCA12) ELISA kit 96T
ABCA12 ABCA1 Gene ATP-binding cassette, sub-family A (ABC1), member 1
ABCA2 ABCA12 Gene ATP-binding cassette, sub-family A (ABC1), member 12
CSB-EL001036HU Human ATP-binding cassette sub-family A member 12(ABCA12) ELISA kit SpeciesHuman 96T
18-003-44039 LIM domain-binding protein 1 - Nuclear LIM interactor; Carboxyl-terminal LIM domain-binding protein 2; CLIM-2; LIM domain-binding factor CLIM2; hLdb1 Polyclonal 0.05 mg Aff Pur
18-003-43098 LIM domain-binding protein 2 - Carboxyl-terminal LIM domain-binding protein 1; CLIM-1; LIM domain-binding factor CLIM1 Polyclonal 0.1 mg Protein A
18-003-42854 LIM domain-binding protein 2 - Carboxyl-terminal LIM domain-binding protein 1; CLIM-1; LIM domain-binding factor CLIM1 Polyclonal 0.1 mg Protein A
E0309m ELISA 180 kDa bullous pemphigoid antigen 2,Bp180,Bpag2,Bullous pemphigoid antigen 2,Col17a1,Collagen alpha-1(XVII) chain,Mouse,Mus musculus 96T
E0309m ELISA kit 180 kDa bullous pemphigoid antigen 2,Bp180,Bpag2,Bullous pemphigoid antigen 2,Col17a1,Collagen alpha-1(XVII) chain,Mouse,Mus musculus 96T
U0309b CLIA 180 kDa bullous pemphigoid antigen 2,Bos taurus,Bovine,BP180,BPAG2,Bullous pemphigoid antigen 2,COL17A1,Collagen alpha-1(XVII) chain 96T
U0309m CLIA 180 kDa bullous pemphigoid antigen 2,Bp180,Bpag2,Bullous pemphigoid antigen 2,Col17a1,Collagen alpha-1(XVII) chain,Mouse,Mus musculus 96T
E0309b ELISA 180 kDa bullous pemphigoid antigen 2,Bos taurus,Bovine,BP180,BPAG2,Bullous pemphigoid antigen 2,COL17A1,Collagen alpha-1(XVII) chain 96T
E0309b ELISA kit 180 kDa bullous pemphigoid antigen 2,Bos taurus,Bovine,BP180,BPAG2,Bullous pemphigoid antigen 2,COL17A1,Collagen alpha-1(XVII) chain 96T
U0309h CLIA 180 kDa bullous pemphigoid antigen 2,BP180,BPAG2,Bullous pemphigoid antigen 2,COL17A1,Collagen alpha-1(XVII) chain,Homo sapiens,Human 96T
E0309h ELISA kit 180 kDa bullous pemphigoid antigen 2,BP180,BPAG2,Bullous pemphigoid antigen 2,COL17A1,Collagen alpha-1(XVII) chain,Homo sapiens,Human 96T
E0309h ELISA 180 kDa bullous pemphigoid antigen 2,BP180,BPAG2,Bullous pemphigoid antigen 2,COL17A1,Collagen alpha-1(XVII) chain,Homo sapiens,Human 96T
CSB-EL001036HU Human ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12) ELISA kit, Species Human, Sample Type serum, plasma 96T
18-003-44056 PR domain zinc finger protein 1 - PR domain-containing protein 1; Beta-interferon gene positive regulatory domain I-binding factor; BLIMP-1; Positive regulatory domain I-binding factor 1; PRDI-binding 0.1 mg Protein A
25-312 NR1I2 belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. NR1I2 contains a zinc finger domain.NR1 0.05 mg
29-121 NR1I2 belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. NR1I2 contains a zinc finger domain.NR1 0.1 mg
29-080 NR1I2 belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. NR1I2 contains a zinc finger domain.NR1 0.1 mg
29-641 OTC is a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this en 0.1 mg


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur | Gentaur





GENTAUR Ltd.
Unicorn House, Station Cl
Hertfordshire, Potters Bar EN6 1TL
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017
RIB 30004 00187 00010092253 10
BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG
IBAN FR76 3000 4001 8700 0100 9225 310
france@gentaur.com | Gentaur | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur | Gentaur