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 :11668628
Publication Date : //

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.


Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8.

Authors : Hubacek J A , Berge K E , Cohen J C , Hobbs H H ,

Related products :

Catalog number Product name Quantity
CSB-EL001083RA Rat ATP-binding cassette sub-family G member 5(ABCG5) ELISA kit 96T
CSB-EL001084RA Rat ATP-binding cassette sub-family G member 8(ABCG8) ELISA kit 96T
ABCG5 ABCG2 Gene ATP-binding cassette, sub-family G (WHITE), member 2
CSB-EL001083HU Human ATP-binding cassette sub-family G member 5(ABCG5) ELISA kit 96T
ABCG52-A Anti-rat ATP binding cassette, subfamily G, member 5, (ABCG5) IgG # 2, aff pure 100 ug
ABCG52-P Rat ATP binding cassette, subfamily G, member 5, (ABCG5) Control_blocking peptide 2 100 ug
ABCG52-A Anti_rat ATP binding cassette, subfamily G, member 5, (ABCG5) IgG 2, aff pure 100 ug
CSB-EL001083MO Mouse ATP-binding cassette sub-family G member 5(ABCG5) ELISA kit 96T
CSB-EL001083GU Guinea pig ATP-binding cassette sub-family G member 5(ABCG5) ELISA kit 96T
ABCG51-A Anti_human ATP binding cassette, subfamily G, member 5, (ABCG5) IgG 1, aff pure 100 ug
ABHD1 ABCG5 Gene ATP-binding cassette, sub-family G (WHITE), member 5
CSB-EL001083RA Rat ATP-binding cassette sub-family G member 5(ABCG5) ELISA kit SpeciesRat 96T
ABHD10 ABCG8 Gene ATP-binding cassette, sub-family G (WHITE), member 8
ABCG8 ABCG4 Gene ATP-binding cassette, sub-family G (WHITE), member 4
ABCG82-A Anti-rat ATP binding cassette, subfamily G, member 8, (ABCG8) IgG # 2, aff pure 100 ug
ABCG82-P Rat ATP binding cassette, subfamily G, member 8, (ABCG8) Control_blocking peptide 2 100 ug
CSB-EL001084HU Human ATP-binding cassette sub-family G member 8(ABCG8) ELISA kit 96T
CSB-EL001084GU Guinea pig ATP-binding cassette sub-family G member 8(ABCG8) ELISA kit 96T
ABCG81-A Anti-rat ATP binding cassette, subfamily G, member 8, (ABCG8) IgG # 1, aff pure 100 ug
CSB-EL001084MO Mouse ATP-binding cassette sub-family G member 8(ABCG8) ELISA kit 96T
ABCG81-A Anti_rat ATP binding cassette, subfamily G, member 8, (ABCG8) IgG 1, aff pure 100 ug
ABCG81-P Rat ATP binding cassette, subfamily G, member 8, (ABCG8) Control_blocking peptide 1 100 ug
ABCG82-A Anti_rat ATP binding cassette, subfamily G, member 8, (ABCG8) IgG 2, aff pure 100 ug
CSB-EL001084RA Rat ATP-binding cassette sub-family G member 8(ABCG8) ELISA kit SpeciesRat 96T
CSB-EL001083MO Mouse ATP-binding cassette sub-family G member 5(ABCG5) ELISA kit SpeciesMouse 96T


 

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 Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | 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

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | 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 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
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | 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
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

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