TMEM241

Description

The TMEM241 (transmembrane protein 241) is a protein-coding gene located on chromosome 18.

TMEM241, also known as C18orf45 or hVVT, is a ubiquitous sugar transporter protein in humans encoded by the TMEM241 gene. It is located on chromosome 18 at position 18q11.2, spanning 142,188 base pairs and containing 24 exons. TMEM241 is situated near other genes like CABLES1, RIOK3, and NPC1. The primary mRNA transcript for TMEM241, isoform 1, has a conserved 5' UTR hairpin loop in primates and includes binding sites for miRNAs 520f-5p, 378a-5p, and 6866-5p in its 3' UTR. Over 10 transcript variants are predicted for the human TMEM241 gene, with isoform 1 having an approximate mass of 31 kDa and an isoelectric point of 8.7. The protein is rich in phenylalanine, containing double the usual amount. TMEM241 consists of 9 transmembrane domains, forming a hydrophobic integral component of the membrane primarily composed of alpha helices. It contains a VRG4 (Vanadate Resistant Glycosylation) domain that shows homology to the sugar transporter domain VRG4 from Saccharomyces cerevisiae (yeast).

TMEM241 is a Golgi-localized transporter responsible for moving UDP-N-acetylglucosamine (UDP-GlcNAc) into the Golgi lumen. This transport plays a crucial role in the lysosomal targeting of NPC2, a protein essential for cholesterol release from lysosomes. NPC2 relies on the mannose-6-phosphate (M6P) modification pathway for its lysosomal localization, and TMEM241 facilitates this process.

TMEM241 is also known as C18orf45, SLC35D4, hVVT.

Associated Diseases

WES Whole Exome Sequencing