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 :10521290
Publication Date : //

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.


Niemann-Pick type II disease is an autosomal recessive disorder characterized by a defect in intracellular trafficking of sterols. We have determined the intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of the disease. SSCP analyses were designed for these exons and were used to identify the majority of mutations in 13 apparently unrelated families. Thirteen mutations were found, accounting for 19 of the 26 alleles. These mutations included eight different missense mutations (including one reported by Greer et al. [1998]), one 4-bp and two 2-bp deletions that generate premature stop codons, and two intronic mutations that are predicted to alter splicing. Two of the missense mutations were present in predicted transmembrane (TM) domains. Clustering of these and other reported NPC1 mutations in the carboxy-terminal third of the protein indicates that screening of these exons, by means of the SSCP analyses reported here, will detect most mutations. The carboxy-terminal half of the Npc1 protein shares amino acid similarity with the TM domains of the morphogen receptor Patched, with the largest stretch of unrelated sequence lying between two putative TM spans. Alignment of this portion of the human Npc1 protein sequence with Npc1-related sequences from mouse, yeast, nematode, and a plant, Arabidopsis, revealed conserved cysteine residues that may coordinate the structure of this domain. That 7 of a total of 13 NPC1 missense mutations are concentrated in this single Npc1-specific domain suggests that integrity of this region is particularly critical for normal functioning of the protein.

Authors : Greer W L , Dobson M J , Girouard G S , Byers D M , Riddell D C , Neumann P E ,

Related products :

Catalog number Product name Quantity
A3993 NPC1 Primary Antibody, NPC1, Species: Human Recombinant Protein Source: Rabbit Polyclonal 100ug
10-663-45278 Resistin Human - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich secreted p 1 mg
10-663-45278 Resistin Human - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich secreted p 0.025 mg
10-663-45278 Resistin Human - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich secreted p 0.005 mg
E0847h ELISA Adipose tissue-specific secretory factor,ADSF,C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein,Cysteine-rich secreted protein A12-alpha-like 2,Cysteine-rich secreted prote 96T
U0847h CLIA Adipose tissue-specific secretory factor,ADSF,C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein,Cysteine-rich secreted protein A12-alpha-like 2,Cysteine-rich secreted protei 96T
E0847h ELISA kit Adipose tissue-specific secretory factor,ADSF,C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein,Cysteine-rich secreted protein A12-alpha-like 2,Cysteine-rich secreted 96T
10-663-45279 Resistin (FIZZ3) Mouse - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich se 1 mg
10-663-45279 Resistin (FIZZ3) Mouse - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich se 0.005 mg
10-663-45279 Resistin (FIZZ3) Mouse - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich se 0.025 mg
18-001-30043 Resistin - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich secreted protein 0.1 mg
18-001-30044 Resistin - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cysteine-rich secreted protein 0.1 mg
EIAAB09410 CocoaCrisp,CRISP10,CRISP-10,CRISPLD1,Cysteine-rich secretory protein 10,Cysteine-rich secretory protein LCCL domain-containing 1,Homo sapiens,Human,LCCL domain-containing cysteine-rich secretory prote
EIAAB09414 CRISP11,CRISP-11,CRISPLD2,Cysteine-rich secretory protein 11,Cysteine-rich secretory protein LCCL domain-containing 2,Homo sapiens,Human,LCCL domain-containing cysteine-rich secretory protein 2,LCRISP
10-663-45276 Resistin like beta (RELM-b) Human - RELMbeta; Cysteine-rich secreted protein FIZZ2; Colon and small intestine-specific cysteine-rich protein; Cysteine-rich secreted protein A12-alpha-like 1; Colon car 0.025 mg
10-663-45276 Resistin like beta (RELM-b) Human - RELMbeta; Cysteine-rich secreted protein FIZZ2; Colon and small intestine-specific cysteine-rich protein; Cysteine-rich secreted protein A12-alpha-like 1; Colon car 1 mg
10-663-45276 Resistin like beta (RELM-b) Human - RELMbeta; Cysteine-rich secreted protein FIZZ2; Colon and small intestine-specific cysteine-rich protein; Cysteine-rich secreted protein A12-alpha-like 1; Colon car 0.005 mg
10-663-45275 Resistin like alpha (RELM-a) Mouse - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cyst 0.025 mg
10-663-45275 Resistin like alpha (RELM-a) Mouse - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cyst 0.005 mg
10-663-45275 Resistin like alpha (RELM-a) Mouse - Cysteine-rich secreted protein FIZZ3; Adipose tissue-specific secretory factor; ADSF; C_EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein; Cyst 1 mg
EIAAB40199 24b2_STAC2,Homo sapiens,Human,SH3 and cysteine-rich domain-containing protein 2,Src homology 3 and cysteine-rich domain-containing protein 2,STAC2
EIAAB40198 Homo sapiens,Human,SH3 and cysteine-rich domain-containing protein,Src homology 3 and cysteine-rich domain-containing protein,STAC
EIAAB40200 24b2_STAC2,Mouse,Mus musculus,SH3 and cysteine-rich domain-containing protein 2,Src homology 3 and cysteine-rich domain-containing protein 2,Stac2
EIAAB40197 Mouse,Mus musculus,SH3 and cysteine-rich domain-containing protein,Src homology 3 and cysteine-rich domain-containing protein,Stac
EIAAB40196 Bos taurus,Bovine,SH3 and cysteine-rich domain-containing protein,Src homology 3 and cysteine-rich domain-containing protein,STAC


 

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