KRTAP12-2

Summary

KRTAP12-2 (keratin associated protein 12-2, HGNC:20530) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 12-2 (P59991). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-link….

Predicted to be located in cytosol.

Source: NCBI Gene 353323 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 26 total
• MANE Select transcript: NM_181684

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20530
Approved symbol	KRTAP12-2
Name	keratin associated protein 12-2
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP12.2, KAP12.2
Ensembl gene	ENSG00000221864
Ensembl biotype	protein_coding
Entrez	353323

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000360770

RefSeq mRNA: 1 — MANE Select: NM_181684 NM_181684

CCDS: CCDS42965

Canonical transcript exons

ENST00000360770 — 1 exons

Exon	Start	End
ENSE00001406200	44666189	44666927

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 88.03.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.03	gold quality
sural nerve	UBERON:0015488	38.63	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skin of abdomen	UBERON:0001416	36.79	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
zone of skin	UBERON:0000014	35.51	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skin of leg	UBERON:0001511	34.84	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
right lung	UBERON:0002167	30.72	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.27	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
tonsil	UBERON:0002372	28.79	gold quality
blood	UBERON:0000178	28.23	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
right adrenal gland cortex	UBERON:0035827	27.26	silver quality
urinary bladder	UBERON:0001255	26.92	gold quality
muscle of leg	UBERON:0001383	26.65	silver quality
leukocyte	CL:0000738	26.42	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
monocyte	CL:0000576	26.30	silver quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting KRTAP12-2, 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-298	99.63	67.56	1916
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-4522	95.76	66.23	742
HSA-MIR-3130-3P	94.98	66.97	574
HSA-MIR-4793-3P	94.87	65.85	896

Cross-species orthologs

25 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap10-4	ENSMUSG00000069582
mus_musculus	Krtap10-31	ENSMUSG00000071195
mus_musculus	Krtap10-21	ENSMUSG00000094120
mus_musculus	Krtap10-27	ENSMUSG00000094913
mus_musculus	Krtap10-26	ENSMUSG00000095593
mus_musculus	Krtap10-25	ENSMUSG00000095721
mus_musculus	Krtap10-22	ENSMUSG00000095817
mus_musculus	Krtap10-33	ENSMUSG00000095970
mus_musculus	Krtap10-29	ENSMUSG00000096131
mus_musculus	Krtap10-34	ENSMUSG00000096380
mus_musculus	Krtap10-23	ENSMUSG00000096481
mus_musculus	Krtap10-24	ENSMUSG00000111915
mus_musculus	Krtap10-28	ENSMUSG00000112170
mus_musculus	Krtap10-10	ENSMUSG00000112223
mus_musculus	Krtap10-30	ENSMUSG00000112380
mus_musculus	Gm49918	ENSMUSG00000112600
mus_musculus	Krtap10-35	ENSMUSG00000112653
mus_musculus	Krtap10-32	ENSMUSG00000112864
rattus_norvegicus	Krtap10-8l1	ENSRNOG00000001218
rattus_norvegicus	Krtap10-10	ENSRNOG00000032530
rattus_norvegicus	Krtap10-9	ENSRNOG00000043302
rattus_norvegicus	Krtap10-1l1	ENSRNOG00000046538
rattus_norvegicus	Krtap10-1	ENSRNOG00000047532
rattus_norvegicus	LOC120098854	ENSRNOG00000067436
rattus_norvegicus	Krtap10-10l2	ENSRNOG00000069553

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-8 (ENSG00000187766), KRTAP10-6 (ENSG00000188155), KRTAP1-1 (ENSG00000188581), KRTAP10-12 (ENSG00000189169), KRTAP4-3 (ENSG00000196156), KRTAP9-9 (ENSG00000198083), KRTAP4-6 (ENSG00000198090), KRTAP4-5 (ENSG00000198271), KRTAP4-1 (ENSG00000198443), KRTAP9-3 (ENSG00000204873), KRTAP4-8 (ENSG00000204880), KRTAP1-4 (ENSG00000204887), KRTAP12-3 (ENSG00000205439), KRTAP10-2 (ENSG00000205445), KRTAP5-6 (ENSG00000205864), KRTAP5-2 (ENSG00000205867), KRTAP16-1 (ENSG00000212657), KRTAP9-6 (ENSG00000212659), KRTAP4-11 (ENSG00000212721), KRTAP4-9 (ENSG00000212722), KRTAP2-3 (ENSG00000212724), KRTAP2-1 (ENSG00000212725), KRTAP10-3 (ENSG00000212935), KRTAP4-12 (ENSG00000213416), KRTAP2-4 (ENSG00000213417), KRTAP2-2 (ENSG00000214518), KRTAP10-4 (ENSG00000215454), KRTAP10-1 (ENSG00000215455), KRTAP10-9 (ENSG00000221837), KRTAP1-5 (ENSG00000221852), KRTAP10-10 (ENSG00000221859), KRTAP1-3 (ENSG00000221880), KRTAP9-2 (ENSG00000239886), KRTAP9-1 (ENSG00000240542), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 12-2 — P59991 (reviewed: P59991)

Alternative names: High sulfur keratin-associated protein 12.2, Keratin-associated protein 12.2

All UniProt accessions (1): P59991

UniProt curated annotations — full annotation on UniProt →

Function. In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Subunit / interactions. Interacts with hair keratins.

Tissue specificity. Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

Similarity. Belongs to the KRTAP type 12 family.

RefSeq proteins (1): NP_859012* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007951	KRTAP_PMG	Family

Pfam: PF05287

UniProt features (31 total): repeat 23, sequence variant 6, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P59991-F1	70.96	0.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 19 (showing top): MARTINEZ_RB1_TARGETS_DN, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, GSE14350_TREG_VS_TEFF_DN, MARTINEZ_RB1_AND_TP53_TARGETS_DN, WP_VITAMIN_D_RECEPTOR_PATHWAY, GSE2826_XID_VS_BTK_KO_BCELL_DN, GSE5542_UNTREATED_VS_IFNA_TREATED_EPITHELIAL_CELLS_6H_UP, TATAAA_TATA_01, GSE23925_LIGHT_ZONE_VS_DARK_ZONE_BCELL_UP, MARTINEZ_TP53_TARGETS_DN

GO Biological Process (0):

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

GO Cellular Component (2): cytosol (GO:0005829), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

228 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP12-2	KRTAP6-2	Q3LI66	505
KRTAP12-2	KRTAP24-1	Q3LI83	499
KRTAP12-2	SLX9	Q9NSI2	460
KRTAP12-2	KRTAP6-1	Q3LI64	447
KRTAP12-2	OR12D2	P58182	447
KRTAP12-2	KRTAP7-1	Q8IUC3	434
KRTAP12-2	KRTAP13-1	Q8IUC0	421
KRTAP12-2	KRTAP8-1	Q8IUC2	416
KRTAP12-2	TSPEAR	Q8WU66	412
KRTAP12-2	PXDC1	Q5TGL8	399
KRTAP12-2	ADCK1	Q86TW2	386
KRTAP12-2	DCP1B	Q8IZD4	351
KRTAP12-2	KRT83	P78385	348
KRTAP12-2	SUPT3H	O75486	346
KRTAP12-2	LRRC3	Q9BY71	341

IntAct

407 interactions, top by confidence:

A	B	Type	Score
VENTX	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP5-9	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP12-2	OTX1	psi-mi:“MI:0915”(physical association)	0.720
FHL3	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP12-2	KRTAP26-1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP12-2	TNS2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP12-2	ZBTB9	psi-mi:“MI:0915”(physical association)	0.720
KRTAP12-2	VENTX	psi-mi:“MI:0915”(physical association)	0.720
KRTAP12-2	FHL3	psi-mi:“MI:0915”(physical association)	0.720
KRTAP26-1	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.720
TNS2	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.720
ZBTB9	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.720
OTX1	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP12-2	ARID5A	psi-mi:“MI:0915”(physical association)	0.700
ARID5A	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.700
KRTAP12-2	AVPI1	psi-mi:“MI:0915”(physical association)	0.670
AVPI1	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.670
	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-2		psi-mi:“MI:0915”(physical association)	0.560
HOXA1	KRTAP12-2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (138): KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP12-2 (Two-hybrid)

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, O75690, P02438, P02441, P02442, P02443, P08131, P0C7H8, P26371, P59990, P59991, P60014, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q6L8G8, Q6L8G9, Q6L8H2, Q701N4, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0, Q9BYQ2

Diamond homologs: P59990, P59991

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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
Keratinization	15	15.2×	3e-12

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	6	18.0×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

318 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44666665:CACAG:C	donor_gain	0.8300
21:44666411:T:C	donor_gain	0.7000
21:44666669:G:C	donor_gain	0.7000
21:44666383:AT:A	donor_gain	0.6900
21:44666465:C:CC	acceptor_gain	0.6800
21:44666654:A:AC	donor_gain	0.6800
21:44666655:C:CC	donor_gain	0.6800
21:44666632:A:T	donor_gain	0.6700
21:44666673:A:AC	donor_gain	0.6600
21:44666674:C:CC	donor_gain	0.6600
21:44666255:C:A	donor_gain	0.6500
21:44666656:G:C	donor_gain	0.6400
21:44666384:T:C	donor_gain	0.6200
21:44666626:A:C	donor_gain	0.6200
21:44666692:A:T	donor_gain	0.6200
21:44666448:A:T	acceptor_gain	0.6100
21:44666463:TA:T	acceptor_gain	0.6100
21:44666650:G:A	donor_gain	0.6100
21:44666672:G:T	donor_gain	0.6100
21:44666709:AG:A	donor_gain	0.6100
21:44666446:TCA:T	acceptor_gain	0.6000
21:44666447:C:A	acceptor_gain	0.5800
21:44666447:C:CT	acceptor_gain	0.5700
21:44666655:CGGG:C	donor_gain	0.5700
21:44666675:T:C	donor_gain	0.5700
21:44666744:A:AC	donor_gain	0.5700
21:44666745:C:CC	donor_gain	0.5700
21:44666384:T:TA	donor_gain	0.5600
21:44666694:A:T	donor_gain	0.5600
21:44666710:G:GA	donor_gain	0.5600

AlphaMissense

943 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44666677:G:C	F70L	0.635
21:44666677:G:T	F70L	0.635
21:44666679:A:G	F70L	0.635
21:44666737:G:C	F50L	0.608
21:44666737:G:T	F50L	0.608
21:44666739:A:G	F50L	0.608
21:44666740:G:C	S49R	0.579
21:44666740:G:T	S49R	0.579
21:44666742:T:G	S49R	0.579
21:44666620:G:C	S89R	0.575
21:44666620:G:T	S89R	0.575
21:44666622:T:G	S89R	0.575

dbSNP variants (sampled 300 via entrez): RS1003618501 (21:44667876 T>C,G), RS1005206959 (21:44668567 G>T), RS1007282569 (21:44667109 C>T), RS1008121469 (21:44667333 G>A), RS1009193969 (21:44667464 G>A,T), RS1009246467 (21:44667859 T>C), RS1017674639 (21:44668759 G>A), RS1026433238 (21:44668356 G>T), RS1029461459 (21:44668715 A>C), RS1032130275 (21:44667419 A>G), RS1033636266 (21:44667893 C>G), RS1042500761 (21:44668496 C>G,T), RS1054328263 (21:44667817 C>T), RS1054813641 (21:44668543 C>G), RS111656745 (21:44665999 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:604219, MIM:616341, MIM:244400

GenCC curated gene-disease

Mondo (3): cataract 9 multiple types (MONDO:0011413), developmental and epileptic encephalopathy, 30 (MONDO:0014595), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (2): Cataract-microcornea syndrome (Orphanet:1377), Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Catechin	affects cotreatment, increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)