Mfsd6l is a gene with diverse associations. Although no common aliases are mentioned in the provided references, it has been linked to several biological contexts. In spermatogenesis, it may play a role in the formation of the sperm acrosome, an important structure for sperm function [1]. Additionally, it has been associated with potential involvement in the carcinogenesis of pancreatic cancer through DNA methylation changes [2].

In a study on oligoasthenoteratozoospermia, bi-allelic loss-of-function variants of MFSD6L were identified in an affected family. Mfsd6l knockout male mice presented male subfertility with reduced sperm concentration, motility, and deformed acrosomes. Mechanistically, MFSD6L, as an acrosome membrane protein, interacts with the inner acrosomal membrane protein SPACA1, playing an important role in acrosome formation. Intracytoplasmic sperm injection using sperm from MFSD6L-deficient humans and mice led to poor embryonic development [1].

In conclusion, Mfsd6l is crucial for sperm acrosome anchoring and head shaping, with its deficiency causing oligoasthenoteratozoospermia in both humans and mice. Its potential role in pancreatic cancer through DNA methylation changes also indicates its importance in understanding carcinogenesis. The Mfsd6l knockout mouse model has been instrumental in revealing its role in male fertility-related biological processes [1,2].

References:

1. Zhou, Dapeng, Wu, Huan, Wang, Lingbo, Cao, Yunxia, Liu, Chunyu. 2024. Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice. In Journal of genetics and genomics = Yi chuan xue bao, 51, 1007-1019. doi:10.1016/j.jgg.2024.06.008. https://pubmed.ncbi.nlm.nih.gov/38909778/

2. Michaud, Dominique S, Ruan, Mengyuan, Koestler, Devin C, De Vivo, Immaculata, Kelsey, Karl T. 2020. Epigenome-Wide Association Study Using Prediagnostic Bloods Identifies New Genomic Regions Associated With Pancreatic Cancer Risk. In JNCI cancer spectrum, 4, pkaa041. doi:10.1093/jncics/pkaa041. https://pubmed.ncbi.nlm.nih.gov/33134824/