Target intelligence / Profile preview

Cilia and flagella associated protein 276 (CFAP276)

Target
CFAP276
Molecular classification
Other (Microtubule-associated protein, axonemal protein, microtubule inner protein)
01

Overview

Cilia and flagella associated protein 276 (CFAP276) is a microtubule inner protein (MIP) that is part of the dynein-decorated doublet microtubules in the cilia axoneme, a core structural component of motile cilia and flagella[3][5]. CFAP276 is predicted to be involved in regulating flagellated sperm motility and is localized within axonemal microtubules, which are critical for cilia function[3][4][5]. It may also contribute to the maintenance of myelin-axon integrity and influence intracellular calcium homeostasis, though these are suggested by functional similarity rather than confirmed direct activity in humans[3][5]. CFAP276 is not currently recognized as a direct therapeutic target (receptor, enzyme, transporter, etc.), and there are no known drugs that specifically interact with this protein[3][5]. Mutations or variations in CFAP276 have been associated with Charcot-Marie-Tooth disease, implicating a potential, though indirect, disease association[3].

Other names
C1orf194 (previous symbol)CF276_HUMAN (UniProt)Q5T5A4 (UniProt accession)ENSG00000179902 (Ensembl)
02

Biological functions

Flagellated sperm motilityMaintenance of motile cilia beatingMay play a role in myelin-axon integrity (by similarity)May affect intracellular Ca(2+) homeostasis
03

Disease associations

Charcot-Marie-Tooth diseasePeripheral nervous system disease (possible association; not a primary target)

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