Target intelligence / Profile preview

Leucine-rich repeat-containing protein 46 (LRRC46)

Target
LRRC46
Molecular classification
Other (Leucine-rich repeat family protein), Structural protein/axonemal protein (testis-enriched, implicated in flagellum formation)
01

Overview

Leucine-rich repeat-containing protein 46 (LRRC46) is a member of the leucine-rich repeat (LRR) superfamily, typically localized at the midpiece of sperm flagella and highly expressed in adult testis. LRRC46 is essential for sperm flagellum formation and male fertility, as demonstrated by knockout mouse studies that show absent or malformed sperm flagella, reduced sperm count, impaired motility, and infertility. Mutations in LRRC46 lead to multiple morphological abnormalities of the sperm flagella (MMAF), making it a key factor in spermatogenesis but not currently a direct therapeutic target. Studies also suggest LRRC46 may be similar in function to other LRR proteins involved in axonemal assembly and ciliary function, with genetic disruption causing structural and functional deficits in sperm[2].

Other names
LRRC46MGC16309leucine-rich repeat-containing protein 46
02

Biological functions

Sperm flagellum biogenesisSpermatogenesisStructural integrity of sperm
03

Disease associations

Male infertility (multiple morphological abnormalities of the sperm flagella, MMAF)Other (flagellar/ciliary disorders, based on family relationships)
04

Biomarkers

LRRC46 mutations as diagnostic biomarker for MMAF-type male infertility

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