Target intelligence / Profile preview

Axonemal dynein light chain domain-containing protein 1 (AXDND1)

Target
AXDND1
Molecular classification
Other, Dynein-related protein family (atypical member)
01

Overview

Axonemal dynein light chain domain-containing protein 1 (AXDND1) is a protein-coding gene primarily expressed in the testis and is essential for spermiogenesis and male fertility in mammals[1][2][7]. It is predicted to function in regulating manchette dynamics, spermatid head shaping, and assembly of the sperm flagellum, likely by participating in protein and vesicle transport along microtubules[1][2]. Disruption of AXDND1 in mouse models leads to male sterility, abnormal sperm structures, and defective sperm motility, with similar pathogenic variants associated with human azoospermia[2]. The gene contains a conserved dynein light chain domain but is significantly larger than canonical dynein light chain proteins, and is considered an atypical member of the dynein-related protein family[2]. There is currently no evidence indicating it is targeted by existing drugs or used as a biomarker in clinical settings[1][2][9].

Other names
C1orf125FLJ32940axonemal dynein light chain domain containing 1AXDND1
02

Biological functions

SpermiogenesisSperm flagellum assemblyManchette assemblyRegulation of spermatogonial differentiationMaintenance of male fertilityRegulation of manchette dynamicsSpermatid head shapingProtein transport along microtubulesVesicle transport along microtubules
03

Disease associations

Male infertilityGenetic nephrotic syndromeIdiopathic nephrotic syndromeAzoospermia

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