STAP1

Summary

STAP1 (signal transducing adaptor family member 1, HGNC:24133) is a protein-coding gene on chromosome 4q13.2, encoding Signal-transducing adaptor protein 1 (Q9ULZ2). In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC.

The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 26228 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 158 total — 1 likely-pathogenic
• MANE Select transcript: NM_012108

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24133
Approved symbol	STAP1
Name	signal transducing adaptor family member 1
Location	4q13.2
Locus type	gene with protein product
Status	Approved
Aliases	STAP-1, BRDG1
Ensembl gene	ENSG00000035720
Ensembl biotype	protein_coding
OMIM	604298
Entrez	26228

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000265404, ENST00000396225, ENST00000894638, ENST00000894639

RefSeq mRNA: 2 — MANE Select: NM_012108 NM_001317769, NM_012108

CCDS: CCDS3515

Canonical transcript exons

ENST00000265404 — 9 exons

Exon	Start	End
ENSE00000371763	67571084	67571155
ENSE00000718793	67575385	67575498
ENSE00000718799	67577203	67577259
ENSE00000718804	67581305	67581471
ENSE00000718819	67583574	67583702
ENSE00000718848	67590884	67590953
ENSE00000718890	67593260	67593356
ENSE00001072365	67606296	67607337
ENSE00003847227	67558727	67558929

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 87.79.

FANTOM5 (CAGE): breadth broad, TPM avg 3.5981 / max 267.2855, expressed in 256 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47810	1.9033	216
47812	1.5864	181
47811	0.1084	55

Top tissues by expression

264 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	87.79	gold quality
epithelium of nasopharynx	UBERON:0001951	85.00	gold quality
spleen	UBERON:0002106	84.62	gold quality
metanephros cortex	UBERON:0010533	84.55	gold quality
vermiform appendix	UBERON:0001154	84.20	gold quality
granulocyte	CL:0000094	80.86	gold quality
caecum	UBERON:0001153	78.46	gold quality
bone marrow cell	CL:0002092	78.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.60	gold quality
bone marrow	UBERON:0002371	77.45	gold quality
tonsil	UBERON:0002372	76.28	gold quality
superficial temporal artery	UBERON:0001614	75.55	gold quality
blood	UBERON:0000178	74.21	gold quality
adult mammalian kidney	UBERON:0000082	72.91	gold quality
colonic epithelium	UBERON:0000397	70.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.88	gold quality
small intestine Peyer’s patch	UBERON:0003454	69.65	gold quality
renal medulla	UBERON:0000362	69.57	gold quality
kidney	UBERON:0002113	69.02	gold quality
rectum	UBERON:0001052	68.54	gold quality
leukocyte	CL:0000738	67.03	gold quality
small intestine	UBERON:0002108	66.81	gold quality
cortex of kidney	UBERON:0001225	66.57	gold quality
nephron tubule	UBERON:0001231	66.17	silver quality
seminal vesicle	UBERON:0000998	65.78	gold quality
mononuclear cell	CL:0000842	65.59	gold quality
mucosa of transverse colon	UBERON:0004991	65.42	gold quality
monocyte	CL:0000576	65.20	gold quality
gall bladder	UBERON:0002110	65.07	gold quality
metanephros	UBERON:0000081	64.51	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-38	yes	406.06
E-ANND-3	yes	24.69
E-CURD-114	yes	11.39
E-CURD-112	yes	10.09

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
NOS2	Activation

miRNA regulators (miRDB)

67 targeting STAP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863

Literature-anchored findings (GeneRIF, showing 9)

• Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. (PMID:25035151)
• STAP1 associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age </=65 years, and LDL-C levels >/=160 mg/dl. (PMID:28958330)
• The findings confirm and extend the linkage between STAP1 variants and FH, and point to an important role of this adaptor protein within a signaling pathway that affects cholesterol homeostasis. (PMID:30308187)
• Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia. (PMID:31809983)
• Our combined studies in mouse models and carriers of STAP1 variants indicate that STAP1 is not a familial hypercholesterolemia gene. (PMID:31996024)
• Positive interactions between STAP-1 and BCR-ABL influence chronic myeloid leukemia cell proliferation and survival. (PMID:33845308)
• Signal-transducing adaptor protein-1 and protein-2 in hematopoiesis and diseases. (PMID:34780812)
• Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy. (PMID:36713363)
• Relationship between STAP1 methylation in peripheral blood T cells and the clinicopathological characteristics and prognosis of patients within 5-cm diameter HCC. (PMID:37526444)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Stap1	ENSMUSG00000029254
rattus_norvegicus	Stap1	ENSRNOG00000002014

Paralogs (1): STAP2 (ENSG00000178078)

Protein

Protein identifiers

Signal-transducing adaptor protein 1 — Q9ULZ2 (reviewed: Q9ULZ2)

Alternative names: BCR downstream-signaling protein 1, Docking protein BRDG1, Stem cell adaptor protein 1

All UniProt accessions (1): Q9ULZ2

UniProt curated annotations — full annotation on UniProt →

Function. In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC.

Subunit / interactions. Interacts with KIT and CSF1R. Interacts with URI1; the interaction is phosphorylation-dependent and occurs in a growth-dependent manner.

Subcellular location. Nucleus. Cytoplasm. Mitochondrion.

Post-translational modifications. Phosphorylated on tyrosine by TEC. Phosphorylated on tyrosine by KIT.

RefSeq proteins (2): NP_001304698, NP_036240* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000980	SH2	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035877	STAP1_SH2	Domain
IPR036860	SH2_dom_sf	Homologous_superfamily
IPR039111	STAP1/STAP2	Family

Pfam: PF00017, PF00169

UniProt features (26 total): strand 15, helix 5, domain 2, chain 1, turn 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3MAZ	X-RAY DIFFRACTION	1.9
1X1F	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULZ2-F1	79.06	0.39

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 168

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 369 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, WALLACE_PROSTATE_CANCER_RACE_UP, HNF3ALPHA_Q6, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_POSITIVE_REGULATION_OF_MACROPHAGE_ACTIVATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS

GO Biological Process (12): cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), positive regulation of gene expression (GO:0010628), negative regulation of macrophage chemotaxis (GO:0010760), positive regulation of B cell receptor signaling pathway (GO:0050861), positive regulation of phagocytosis, engulfment (GO:0060100), cellular response to lipopolysaccharide (GO:0071222), negative regulation of ruffle assembly (GO:1900028), negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227), positive regulation of microglial cell activation (GO:1903980), negative regulation of microglial cell migration (GO:1904140), positive regulation of microglial cell mediated cytotoxicity (GO:1904151), response to bacterium (GO:0009617)

GO Molecular Function (10): phosphotyrosine residue binding (GO:0001784), transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068), macrophage colony-stimulating factor receptor binding (GO:0005157), phospholipid binding (GO:0005543), protein kinase binding (GO:0019901), protein tyrosine kinase activator activity (GO:0030296), signaling adaptor activity (GO:0035591), protein binding (GO:0005515), protein-macromolecule adaptor activity (GO:0030674), receptor tyrosine kinase binding (GO:0030971)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), nuclear body (GO:0016604), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of macrophage migration	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
cytoplasm	2
enzyme-linked receptor protein signaling pathway	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of leukocyte chemotaxis	1
regulation of macrophage chemotaxis	1
macrophage chemotaxis	1
B cell receptor signaling pathway	1
regulation of B cell receptor signaling pathway	1
positive regulation of antigen receptor-mediated signaling pathway	1
phagocytosis, engulfment	1
positive regulation of phagocytosis	1
regulation of phagocytosis, engulfment	1
positive regulation of membrane invagination	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
ruffle assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of ruffle assembly	1
negative regulation of cytokine-mediated signaling pathway	1
macrophage colony-stimulating factor signaling pathway	1
regulation of macrophage colony-stimulating factor signaling pathway	1
microglial cell activation	1
positive regulation of macrophage activation	1
positive regulation of neuroinflammatory response	1
regulation of microglial cell activation	1
negative regulation of glial cell migration	1
microglial cell migration	1
regulation of microglial cell migration	1
positive regulation of leukocyte mediated cytotoxicity	1
positive regulation of myeloid leukocyte mediated immunity	1
microglial cell mediated cytotoxicity	1
regulation of microglial cell mediated cytotoxicity	1
response to other organism	1

Protein interactions and networks

STRING

584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAP1	BMX	P51813	770
STAP1	ITK	Q08881	633
STAP1	TXK	P42681	580
STAP1	LDLRAP1	Q5SW96	580
STAP1	BTK	Q06187	561
STAP1	PCSK9	Q8NBP7	511
STAP1	PLEK2	Q9NYT0	497
STAP1	IRS2	Q9Y4H2	491
STAP1	PLEK	P08567	471
STAP1	LIPA	P38571	447
STAP1	APOB	P04114	444
STAP1	IRS1	P35568	438
STAP1	PNPLA5	Q7Z6Z6	432
STAP1	TEC	P42680	393
STAP1	NIBAN3	Q86XR2	393

IntAct

41 interactions, top by confidence:

A	B	Type	Score
URI1	POLR2E	psi-mi:“MI:0914”(association)	0.850
STAP1	SH3KBP1	psi-mi:“MI:0915”(physical association)	0.750
SH3KBP1	STAP1	psi-mi:“MI:0915”(physical association)	0.750
RETREG3	STAP1	psi-mi:“MI:0915”(physical association)	0.720
CCND3	CDK1	psi-mi:“MI:0914”(association)	0.640
	STAP1	psi-mi:“MI:0915”(physical association)	0.560
STAP1		psi-mi:“MI:0915”(physical association)	0.560
GRIPAP1	STAP1	psi-mi:“MI:0915”(physical association)	0.560
STAP1	SULT1A1	psi-mi:“MI:0914”(association)	0.530
STAP1	AR	psi-mi:“MI:0407”(direct interaction)	0.440
STAP1	GAB1	psi-mi:“MI:0407”(direct interaction)	0.440
STAP1	KIT	psi-mi:“MI:0407”(direct interaction)	0.440
STAP1	MET	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (31): SH3KBP1 (Two-hybrid), FAM134C (Two-hybrid), CD2AP (Affinity Capture-MS), SULT1A1 (Affinity Capture-MS), SH3KBP1 (Affinity Capture-MS), CAPZA2 (Affinity Capture-MS), CAPZB (Affinity Capture-MS), SH3KBP1 (Two-hybrid), SH3KBP1 (Affinity Capture-MS), CD2AP (Affinity Capture-MS), SULT1A1 (Affinity Capture-MS), STAP1 (Affinity Capture-MS), STAP1 (Affinity Capture-MS), GRIPAP1 (Two-hybrid), FAM134C (Two-hybrid)

ESM2 similar proteins: A1L2W9, B2RQE8, B5XG43, G9CGD6, O08969, O88387, P59113, Q0V987, Q0VC85, Q1KKW7, Q1KKZ1, Q32LP0, Q3UUV5, Q3ZBA3, Q4V7G1, Q503L1, Q53GA4, Q5FVW6, Q5PQT7, Q5R8M5, Q5U597, Q5XGP7, Q5ZL23, Q6P0G8, Q6PG29, Q7Z628, Q7Z6J4, Q80VL0, Q80YS6, Q86UX7, Q86WV1, Q8AW35, Q8BY35, Q8IZC4, Q8K1B8, Q8N556, Q8VH46, Q91ZM9, Q91ZT5, Q925E0

Diamond homologs: Q8R0L1, Q9JM90, Q9UGK3, Q9ULZ2, Q64398, Q86XP1

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
TEC	“up-regulates activity”	STAP1	phosphorylation
PTK2B	“up-regulates activity”	STAP1	phosphorylation
STAP1	“up-regulates activity”	TEC	binding
KIT	“up-regulates activity”	STAP1	phosphorylation
STAP1	“up-regulates activity”	STAT5A	binding
STAP1	“up-regulates activity”	KIT	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
MAPK family signaling cascades	5	46.8×	6e-06
Signaling by Receptor Tyrosine Kinases	6	28.2×	6e-06
Diseases of signal transduction by growth factor receptors and second messengers	5	25.8×	7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

158 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	79
Likely benign	51
Benign	14

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
189309	NM_012108.4(STAP1):c.139A>G (p.Thr47Ala)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1940 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:67577230:T:A	W112R	0.999
4:67577230:T:C	W112R	0.999
4:67571109:T:C	L49S	0.997
4:67583602:G:C	A187P	0.997
4:67583651:G:C	R203T	0.997
4:67583652:G:C	R203S	0.997
4:67583652:G:T	R203S	0.997
4:67558863:G:C	R18S	0.996
4:67558863:G:T	R18S	0.996
4:67577232:G:C	W112C	0.996
4:67577232:G:T	W112C	0.996
4:67583648:T:C	L202P	0.996
4:67583651:G:T	R203M	0.996
4:67571113:A:C	R50S	0.994
4:67571113:A:T	R50S	0.994
4:67577231:G:C	W112S	0.994
4:67558862:G:C	R18T	0.993
4:67571115:G:T	G51V	0.993
4:67583615:T:A	L191H	0.993
4:67583636:G:A	G198E	0.993
4:67583636:G:T	G198V	0.993
4:67583650:A:G	R203G	0.993
4:67571112:G:C	R50T	0.992
4:67583615:T:C	L191P	0.992
4:67590937:T:A	I238N	0.992
4:67571114:G:A	G51R	0.991
4:67571114:G:C	G51R	0.991
4:67577239:T:C	F115L	0.991
4:67577241:C:A	F115L	0.991
4:67577241:C:G	F115L	0.991

dbSNP variants (sampled 300 via entrez): RS1000018319 (4:67576477 A>G,T), RS1000045451 (4:67559714 A>G), RS10000695 (4:67591977 A>G,T), RS1000129913 (4:67582801 C>T), RS10002109 (4:67590356 C>T), RS1000216221 (4:67557013 C>G), RS10002440 (4:67591331 T>A,C,G), RS10002486 (4:67560652 C>A,G,T), RS1000577378 (4:67600723 C>A), RS1000651140 (4:67558223 C>T), RS1000705785 (4:67564909 C>T), RS1000753389 (4:67578809 T>C), RS1000837719 (4:67583807 G>A), RS1000924224 (4:67560146 T>A,C), RS1000933137 (4:67603209 G>A,T)

Disease associations

OMIM: gene MIM:604298 | disease phenotypes: MIM:143890

GenCC curated gene-disease

Mondo (1): hypercholesterolemia, familial, 1 (MONDO:0007750)

Orphanet (1): Homozygous familial hypercholesterolemia (Orphanet:391665)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000005_2	Parkinson’s disease	2.000000e-06
GCST006921_13	Regular attendance at a pub or social club	7.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
GSK-J4	decreases expression	1
bisphenol F	decreases methylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Formaldehyde	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methapyrilene	decreases methylation	1
Methotrexate	increases expression	1
Nickel	increases expression	1
Progesterone	affects cotreatment, decreases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

28 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT00000594	PHASE3	COMPLETED	NHLBI Type II Coronary Intervention Study
NCT00092833	PHASE3	TERMINATED	Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
NCT00134485	PHASE3	COMPLETED	Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia
NCT00134511	PHASE3	COMPLETED	Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
NCT00136981	PHASE3	COMPLETED	Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
NCT00384293	PHASE3	TERMINATED	Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED)
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT00280995	PHASE2	COMPLETED	Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT00281008	PHASE2	COMPLETED	Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT01375751	PHASE2	COMPLETED	Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
NCT00515307	PHASE1	COMPLETED	Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
NCT01583647	PHASE1	TERMINATED	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
NCT00005168	Not specified	COMPLETED	Hyperapo B and Coronary Heart Disease
NCT01753232	Not specified	COMPLETED	Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
NCT03018678	Not specified	COMPLETED	Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
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