CCDC120

Summary

CCDC120 (coiled-coil domain containing 120, HGNC:28910) is a protein-coding gene on chromosome Xp11.23, encoding Coiled-coil domain-containing protein 120 (Q96HB5). Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells.

This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.

Source: NCBI Gene 90060 — RefSeq curated summary.

At a glance

• Gene–disease (curated): osteopetrosis (Limited, GenCC)
• Clinical variants (ClinVar): 145 total — 2 pathogenic
• MANE Select transcript: NM_001163321

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28910
Approved symbol	CCDC120
Name	coiled-coil domain containing 120
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	JM11
Ensembl gene	ENSG00000147144
Ensembl biotype	protein_coding
OMIM	300947
Entrez	90060

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000482476, ENST00000496529, ENST00000536628, ENST00000597275, ENST00000603906, ENST00000603986, ENST00000606812, ENST00000620388

RefSeq mRNA: 6 — MANE Select: NM_001163321 NM_001163321, NM_001163322, NM_001163323, NM_001271835, NM_001271836, NM_033626

CCDS: CCDS14316, CCDS55413, CCDS55414

Canonical transcript exons

ENST00000603986 — 11 exons

Exon	Start	End
ENSE00003514733	49067176	49068090
ENSE00003605070	49058999	49059095
ENSE00003615546	49068544	49069854
ENSE00003621004	49061959	49062104
ENSE00003658728	49062235	49062325
ENSE00003714661	49064370	49064664
ENSE00003721847	49065747	49065845
ENSE00003740478	49062468	49062601
ENSE00003747659	49065454	49065628
ENSE00003751064	49063861	49064001
ENSE00003754875	49065036	49065098

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 94.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2465 / max 67.8850, expressed in 1358 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196313	3.2966	532
196312	3.1557	1049
196311	0.7942	532

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	94.61	gold quality
esophagus mucosa	UBERON:0002469	89.93	gold quality
skin of leg	UBERON:0001511	89.64	gold quality
skin of abdomen	UBERON:0001416	88.62	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.22	gold quality
buccal mucosa cell	CL:0002336	85.07	gold quality
zone of skin	UBERON:0000014	84.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.70	gold quality
cerebellar hemisphere	UBERON:0002245	84.41	gold quality
cerebellar cortex	UBERON:0002129	84.30	gold quality
metanephros cortex	UBERON:0010533	83.64	gold quality
minor salivary gland	UBERON:0001830	83.53	gold quality
cerebellum	UBERON:0002037	82.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.52	gold quality
adenohypophysis	UBERON:0002196	82.52	gold quality
esophagus	UBERON:0001043	82.34	gold quality
vagina	UBERON:0000996	81.86	gold quality
cortical plate	UBERON:0005343	81.64	gold quality
ectocervix	UBERON:0012249	81.04	gold quality
pituitary gland	UBERON:0000007	80.99	gold quality
body of pancreas	UBERON:0001150	80.68	gold quality
body of stomach	UBERON:0001161	80.61	gold quality
mouth mucosa	UBERON:0003729	79.31	gold quality
right lobe of thyroid gland	UBERON:0001119	79.01	gold quality
mucosa of transverse colon	UBERON:0004991	78.95	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.72	gold quality
left lobe of thyroid gland	UBERON:0001120	78.62	gold quality
saliva-secreting gland	UBERON:0001044	78.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.09	gold quality
left ovary	UBERON:0002119	78.02	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting CCDC120, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-143-5P	98.98	68.87	946
HSA-MIR-3127-3P	98.94	67.34	1055

Literature-anchored findings (GeneRIF, showing 2)

• Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth. (PMID:25326380)
• centrosome-binding proteins, coiled-coil domain containing (CCDC) 120 and CCDC68 are two novel subdistal appendages (SDA) components required for hierarchical SDA assembly in human cells. (PMID:28422092)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc120a	ENSDARG00000012449
danio_rerio	ccdc120b	ENSDARG00000032856
mus_musculus	Ccdc120	ENSMUSG00000031150
rattus_norvegicus	Ccdc120	ENSRNOG00000009687

Paralogs (1): INAVA (ENSG00000163362)

Protein

Protein identifiers

Coiled-coil domain-containing protein 120 — Q96HB5 (reviewed: Q96HB5)

All UniProt accessions (2): Q96HB5, S4R3T7

UniProt curated annotations — full annotation on UniProt →

Function. Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells. Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly. Recruits NIN and CEP170 to centrosomes. Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.

Subunit / interactions. Interacts with NIN and CEP170; leading to recruit them to centrosomes. Directly interacts with CYTH2; this interaction stabilizes CCDC120, possibly by preventing ubiquitination.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cell projection. Neuron projection. Growth cone. Endosome.

Post-translational modifications. Ubiquitinated; interaction with CYTH2 may prevent ubiquitination.

Isoforms (5)

UniProt ID	Names	Canonical?
Q96HB5-1	1	yes
Q96HB5-2	2
Q96HB5-3	3
Q96HB5-4	4
Q96HB5-5	5

RefSeq proteins (6): NP_001156793, NP_001156794, NP_001156795, NP_001258764, NP_001258765, NP_296375 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021774	CUPID	Domain
IPR043447	CCDC120/INAVA	Family

Pfam: PF11819

UniProt features (15 total): compositionally biased region 4, region of interest 3, modified residue 3, splice variant 3, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HB5-F1	56.34	0.15

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 (3): 360, 435, 358

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 107 (showing top): RNGTGGGC_UNKNOWN, GOBP_MICROTUBULE_ANCHORING, AREB6_01, GOCC_MICROTUBULE_ORGANIZING_CENTER, AP1_Q4_01, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, BACH2_01, AAAGGGA_MIR204_MIR211, ARGGGTTAA_UNKNOWN, TGANTCA_AP1_C, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOCC_NEURON_PROJECTION, GOCC_CENTRIOLE, GOCC_CILIUM, GOCC_AXON

GO Biological Process (2): intracellular protein localization (GO:0008104), microtubule anchoring at centrosome (GO:0034454)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): endosome (GO:0005768), centriole (GO:0005814), growth cone (GO:0030426), centriolar subdistal appendage (GO:0120103), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995), neuron projection (GO:0043005)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
cellular anatomical structure	2
macromolecule localization	1
microtubule anchoring at microtubule organizing center	1
binding	1
endomembrane system	1
cytoplasmic vesicle	1
microtubule organizing center	1
site of polarized growth	1
distal axon	1
cilium	1
intracellular protein-containing complex	1
intracellular anatomical structure	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

574 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC120	CCDC68	Q9H2F9	919
CCDC120	CEP128	Q6ZU80	898
CCDC120	CEP170	Q5SW79	806
CCDC120	NIN	Q8N4C6	785
CCDC120	CNTRL	Q7Z7A1	739
CCDC120	CYTH2	Q99418	643
CCDC120	SCLT1	Q96NL6	636
CCDC120	CEP89	Q96ST8	634
CCDC120	CEP83	Q9Y592	615
CCDC120	FBF1	Q8TES7	583
CCDC120	CEP164	Q9UPV0	562
CCDC120	CYTH4	Q9UIA0	556
CCDC120	CMTM5	Q96DZ9	555
CCDC120	C2CD3	Q4AC94	547
CCDC120	CC2D2A	Q9P2K1	536

IntAct

401 interactions, top by confidence:

A	B	Type	Score
CCDC120	CEP170	psi-mi:“MI:0403”(colocalization)	0.820
CCDC120	CEP170	psi-mi:“MI:0914”(association)	0.820
CEP170	CCDC120	psi-mi:“MI:0915”(physical association)	0.820
CCDC120	CEP170	psi-mi:“MI:0915”(physical association)	0.820
CCDC120	CEP170	psi-mi:“MI:0407”(direct interaction)	0.820
CEP170	CCDC120	psi-mi:“MI:0914”(association)	0.820
CEP170	CCDC120	psi-mi:“MI:0403”(colocalization)	0.820
CCDC120	NIN	psi-mi:“MI:0403”(colocalization)	0.680
NIN	CCDC120	psi-mi:“MI:0915”(physical association)	0.680
NIN	CCDC120	psi-mi:“MI:0407”(direct interaction)	0.680
CCDC120	NIN	psi-mi:“MI:0915”(physical association)	0.680
NIN	CCDC120	psi-mi:“MI:0403”(colocalization)	0.680
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
CCDC120	ODF2	psi-mi:“MI:0403”(colocalization)	0.600
CCDC120	ODF2	psi-mi:“MI:0915”(physical association)	0.600
CCDC120	PAC1	psi-mi:“MI:0915”(physical association)	0.560
PAC1	CCDC120	psi-mi:“MI:0915”(physical association)	0.560
ZNF417	CCDC120	psi-mi:“MI:0915”(physical association)	0.560
GAS2L2	CCDC120	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (243): CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid), KRT40 (Two-hybrid), CCDC57 (Two-hybrid), CEP170P1 (Two-hybrid), BRCA1 (Two-hybrid), CCDC120 (Two-hybrid), CCDC120 (Two-hybrid)

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A2R8YCJ5, A2A699, A2AEV7, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NL88, A8MVW0, A9JSM3, B2RU40, B8ZZ34, C9JH25, D4A9R4, J3QNX5, P0CG09, P98077, Q0VD38, Q14761, Q17QH7, Q29RK8, Q2KJ18, Q2M3V2, Q3SX20, Q5BJT1, Q5HZJ5, Q5RKR3, Q5T442, Q64697, Q69YZ2, Q6PB97, Q6PCT2, Q6UXK2, Q6ZMQ8, Q6ZVH7, Q6ZW31, Q80XF7, Q8BLS7

Diamond homologs: A2AEV7, Q3KP66, Q7TN12, Q920B0, Q96HB5, Q9Y2L6, Q8BIE6, Q9P2Q2, P26038, P26042, Q2HJ49, P26040, P31977, Q8HZQ5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 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
Intra-Golgi traffic	5	23.2×	2e-04
Keratinization	10	9.9×	8e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	100
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	Pathogenic
190973	hg18chrX:g.(48,802,381_48,809,279)_(48,829,265_48,854,335)del	Pathogenic

SpliceAI

1545 predictions. Top by Δscore:

Variant	Effect	Δscore
X:49062232:CA:C	acceptor_loss	1.0000
X:49062233:A:AG	acceptor_gain	1.0000
X:49062234:G:C	acceptor_loss	1.0000
X:49062234:G:GG	acceptor_gain	1.0000
X:49062234:GA:G	acceptor_gain	1.0000
X:49062234:GACT:G	acceptor_gain	1.0000
X:49062234:GACTT:G	acceptor_gain	1.0000
X:49062464:CCAGC:C	acceptor_loss	1.0000
X:49062465:CAGCT:C	acceptor_loss	1.0000
X:49062466:A:AG	acceptor_gain	1.0000
X:49062466:AGCT:A	acceptor_gain	1.0000
X:49062467:G:GG	acceptor_gain	1.0000
X:49062467:G:GT	acceptor_loss	1.0000
X:49062467:GCT:G	acceptor_gain	1.0000
X:49062467:GCTG:G	acceptor_gain	1.0000
X:49062548:G:GT	donor_gain	1.0000
X:49062584:G:GG	donor_gain	1.0000
X:49062596:G:GT	donor_gain	1.0000
X:49062598:GGCG:G	donor_gain	1.0000
X:49062599:GCGG:G	donor_gain	1.0000
X:49065448:A:AG	acceptor_gain	1.0000
X:49065449:C:G	acceptor_gain	1.0000
X:49065451:CA:C	acceptor_loss	1.0000
X:49065452:A:AG	acceptor_gain	1.0000
X:49065452:A:T	acceptor_loss	1.0000
X:49065452:AGAG:A	acceptor_gain	1.0000
X:49065453:G:GG	acceptor_gain	1.0000
X:49065453:GA:G	acceptor_gain	1.0000
X:49065453:GAGG:G	acceptor_gain	1.0000
X:49065453:GAGGA:G	acceptor_gain	1.0000

AlphaMissense

4388 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:49062576:T:C	L53P	0.999
X:49067903:T:A	W562R	0.998
X:49067903:T:C	W562R	0.998
X:49067905:G:C	W562C	0.998
X:49067905:G:T	W562C	0.998
X:49062599:G:C	A61P	0.997
X:49065793:A:C	S302R	0.997
X:49065795:T:A	S302R	0.997
X:49065795:T:G	S302R	0.997
X:49067297:A:C	S360R	0.997
X:49067299:T:A	S360R	0.997
X:49067299:T:G	S360R	0.997
X:49067906:T:G	Y563D	0.997
X:49062555:T:C	L46P	0.996
X:49064502:G:C	A153P	0.996
X:49067291:A:C	S358R	0.996
X:49067293:C:A	S358R	0.996
X:49067293:C:G	S358R	0.996
X:49067895:T:C	L559P	0.996
X:49067898:G:C	R560P	0.996
X:49064431:C:A	A129D	0.995
X:49062567:T:C	L50P	0.994
X:49062576:T:A	L53H	0.994
X:49062587:T:C	C57R	0.994
X:49064419:T:G	I125S	0.994
X:49064430:G:C	A129P	0.994
X:49065627:A:C	S286R	0.994
X:49065747:C:A	S286R	0.994
X:49065747:C:G	S286R	0.994
X:49065787:G:A	G300R	0.994

dbSNP variants (sampled 300 via entrez): RS1000263512 (X:49052602 C>T), RS1000692841 (X:49069813 C>A), RS1001182264 (X:49063730 G>A), RS1001269192 (X:49054347 C>T), RS1001342996 (X:49054898 C>T), RS1002350111 (X:49057393 C>G), RS1003281689 (X:49059014 C>T), RS1003851663 (X:49052379 G>A), RS1004363207 (X:49061173 C>T), RS1004591159 (X:49068918 C>G,T), RS1004804471 (X:49068506 C>G,T), RS1004811815 (X:49054270 C>G,T), RS1005362030 (X:49063034 A>G), RS1005405982 (X:49053869 G>A,T), RS1005816436 (X:49056819 G>A)

Disease associations

OMIM: gene MIM:300947 | disease phenotypes: MIM:300896

GenCC curated gene-disease

Disease	Classification	Inheritance
osteopetrosis	Limited	X-linked

Mondo (2): SLC35A2-congenital disorder of glycosylation (MONDO:0010478), osteopetrosis (MONDO:0017198)

Orphanet (1): SLC35A2-CDG (Orphanet:356961)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D010022	Osteopetrosis	C05.116.099.708.702.678

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
butyraldehyde	decreases expression	1
potassium nitrate	decreases expression	1
coumarin	increases phosphorylation	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004402	PHASE3	COMPLETED	Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis
NCT00638820	PHASE2	TERMINATED	Reduced Intensity AlloTransplant For Osteopetrosis
NCT00968864	PHASE2	TERMINATED	T-cell Depleted Alternative Donor Transplantation
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT02666768	PHASE2	COMPLETED	ACTIMMUNE in Intermediate Osteopetrosis
NCT00145886	PHASE1	TERMINATED	rhPTH Therapy for Low Turnover Bone Fragility
NCT00775931	PHASE2/PHASE3	COMPLETED	Allogeneic Transplantation For Severe Osteopetrosis
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT01087398	PHASE2/PHASE3	UNKNOWN	Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis
NCT00730314	PHASE1/PHASE2	COMPLETED	Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03301168	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell Transplant
NCT00043329	Not specified	COMPLETED	Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis
NCT00145587	Not specified	TERMINATED	Stem Cell Transplantation for Children Affected With Osteopetrosis
NCT01199094	Not specified	COMPLETED	Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
NCT01200017	Not specified	NO_LONGER_AVAILABLE	Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT06521580	Not specified	COMPLETED	Outcomes of Patients With Osteopetrosis Weight-bearing Bone Fractures