CFAP300 - cilia and flagella associated protein 300 Gene

Homo sapiens

Also known as FBB5; CILD38; DNAAF17; C11orf70

Gene ID: 85016 | Gene type: protein coding

About CFAP300

Cytogenetic location: 11q22.1 Genomic coordinates (GRCh38): 11:102,047,437-102,084,554 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues and is associated with 3 phenotypes. Biased expression in testis (RPKM 12.9), endometrium (RPKM 1.2) and 9 other tissues.

Summary

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Apr 2022]

CFAP300 Products(3)

mRNA	Protein	Name
NM_001195005.2	NP_001181934.1	cilia- and flagella-associated protein 300 isoform 2
NM_001363505.2	NP_001350434.1	cilia- and flagella-associated protein 300 isoform 3
NM_032930.3	NP_116319.2	cilia- and flagella-associated protein 300 isoform 1

CFAP300 Protein Structure

DUF4498

0
100
200
267 a.a.

Protein Preferred Names

Protein Names

cilia- and flagella-associated protein 300

dynein axonemal assembly factor 17

Related Diseases

Diseases

Alias

Ciliary Dyskinesia, Primary, 38

CILD38	Ciliary Dyskinesia, Primary, 38, With Or Without Situs Inversus
Primary Ciliary Dyskinesia 38	Primary Ciliary Dyskinesia 38 With Or Without Situs Inversus

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Kartagener Syndrome

Kartagener'S Syndrome

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance	Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
Kugelberg-Welander Syndrome, Autosomal Dominant	Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
Sma-Led	Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant	Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant
Spinal Muscular Atrophy, Lower Extremity, Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02551	CFAP300 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CFAP300	VGNC	VGNC:71120
Rattus norvegicus	CFAP300	RGD	RGD:1591894
Felis catus	CFAP300	VGNC	VGNC:81996
Canis familiaris	CFAP300	VGNC	VGNC:53318
Mus musculus	CFAP300	MGD	MGI:3045346

Name
Email *

	Sorry, but the email address you supplied was invalid.