Page last updated: 2024-09-27

Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type

An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.

Synonyms(5)

Synonym
Hypobetalipoproteinemia, Familial, Apo B
Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type
Apolipoprotein B Deficiency
Apolipoprotein B Deficiency Disease
Hypobetalipoproteinemia, Familial, Apolipoprotein B

Research

Studies (7)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (42.86)18.1394
2010's3 (42.86)28.8240
2020's1 (14.29)9.53
DrugIndicatedRelationship StrengthStudiesTrials
1-anilino-8-naphthalenesulfonate0low10
d-alpha tocopherol0low30
leupeptins0low10
acetylleucyl-leucyl-norleucinal0low10
retinol0low30
retinol palmitate0low10

Protein Targets (121)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain B, pheromone binding protein0011
Chain A, pheromone binding protein0011
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, RNA-directed RNA polymerase NS50101
acid sphingomyelinase1001
thioredoxin reductase2002
USP1 protein, partial4004
TDP1 protein4004
vitamin D3 receptor isoform VDRA2002
importin subunit beta-1 isoform 12002
flap endonuclease 11001
serine/threonine-protein kinase PLK11001
snurportin-12002
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
GTP-binding nuclear protein Ran isoform 12002
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)2002
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin2002
DNA polymerase kappa isoform 11001
fibroblast growth factor 22 isoform 1 precursor0001
Mitogen-activated protein kinase 130101
Beta-lactamase0101
Transthyretin0011
Fatty acid-binding protein, intestinal0112
Fatty acid-binding protein, adipocyte0112
Cyclin-A20101
Cannabinoid receptor 10011
Cyclin-dependent kinase 20112
Choline O-acetyltransferase0101
Mitogen-activated protein kinase 120101
Guanine nucleotide-binding protein G2002
Fatty acid-binding protein 50011
Fatty acid-binding protein 50011
Mitogen-activated protein kinase 110101
Mitogen-activated protein kinase 140101
Chain A, Cruzipain2002
nuclear receptor ROR-gamma isoform 13003
survival motor neuron protein isoform d1001
Calpain small subunit 10101
Calpain-1 catalytic subunit0101
Cathepsin B0101
ATP-dependent translocase ABCB10001
Replicase polyprotein 1ab0101
Replicase polyprotein 1ab0101
Calpain-1 catalytic subunit0101
Inositol monophosphatase 11001
Microtubule-associated protein tau2002
AR protein2002
cytochrome P450 family 3 subfamily A polypeptide 42002
retinoic acid nuclear receptor alpha variant 12002
estrogen-related nuclear receptor alpha2002
estrogen nuclear receptor alpha3003
activating transcription factor 61001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
heat shock protein beta-13003
lamin isoform A-delta101001
Rap guanine nucleotide exchange factor 32002
Cellular tumor antigen p532002
Glutathione S-transferase P0101
Alpha-tocopherol transfer protein0011
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR0011
interleukin 81001
acetylcholinesterase1001
15-lipoxygenase, partial1001
pregnane X receptor1001
phosphopantetheinyl transferase1001
RAR-related orphan receptor gamma1001
SMAD family member 21001
SMAD family member 31001
GLI family zinc finger 32002
aldehyde dehydrogenase 1 family, member A12002
thyroid stimulating hormone receptor1001
estrogen receptor 2 (ER beta)1001
nuclear receptor subfamily 1, group I, member 31001
glucocorticoid receptor [Homo sapiens]1001
retinoid X nuclear receptor alpha1001
pregnane X nuclear receptor2002
peroxisome proliferator-activated receptor delta1001
peroxisome proliferator activated receptor gamma1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
thyroid stimulating hormone receptor1001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
potassium voltage-gated channel subfamily H member 2 isoform d1001
thyroid hormone receptor beta isoform 21001
mitogen-activated protein kinase 11001
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
nuclear factor erythroid 2-related factor 2 isoform 12002
peripheral myelin protein 221001
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1001
Retinol-binding protein 40011
Beta-lactoglobulin0011
Amyloid-beta precursor protein0101
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Alpha-synuclein0101
Nuclear receptor ROR-gamma1001
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
Disintegrin and metalloproteinase domain-containing protein 171001
GABA theta subunit1001
Gamma-aminobutyric acid receptor subunit epsilon1001
thioredoxin glutathione reductase1001
G1001
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Inositol hexakisphosphate kinase 11001
cytochrome P450 2C9, partial1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]