rs1560614646
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.700
GeneticVariation
CLINVAR
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
17275380
2007
rs755681036
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.700
GeneticVariation
CLINVAR
Abetalipoproteinemia: two case reports and literature review.
18611256
2008
rs199422220
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs199422221
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs199422222
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs1485375137
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs1560621495
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs372321643
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs199422220
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs199422221
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs199422222
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs1485375137
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs372321643
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel missense MTTP gene mutations causing abetalipoproteinemia.
25108285
2014
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
In two patients with ABL , we identified in MTTP a novel frameshift mutation (K35Ffs*37), and four novel missense mutations, namely, G264R , Y528H, R540C, and N649S.
25108285
2014
rs1485375137
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
These studies indicate that missense mutations Y528H , R540C, and N649S appear to cause ABL by reducing MTTP activity rather than by reducing binding of MTTP with protein disulfide isomerase or apoB.
25108285
2014
rs372321643
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
These studies indicate that missense mutations Y528H, R540C , and N649S appear to cause ABL by reducing MTTP activity rather than by reducing binding of MTTP with protein disulfide isomerase or apoB.
25108285
2014
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
26224785
2015
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
26224785
2015