XK-related protein

Definition

This family is represented by the multipass membrane protein XK, which may be involved in sodium-dependent transport of neutral amino acids or oligopeptides. It forms a heterodimer with Kell. In humans, Kell is an 93kDa type II membrane glycoprotein with endothelin-3-converting enzyme activity that is linked by a single disulphide bond to XK, that spans the membrane ten times. An absence of XK leads to clinical symptoms termed the McLeod syndrome [OMIM:314850], an X-linked multi-system disorder characterised by late onset abnormalities in the neuromuscular and hematopoietic systems [[cite:PMID:8004674], [cite:PMID:7737196]]. It has been shown that XK recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane and dysregulation of a VPS13A-XK complex is the common basis for Chorea-Acanthocytosis and McLeod Syndrome PMID:32845802.

9 human proteins with this domain

Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.

Download CSV (9 proteins: gene, accession, name)

• XK
• XKR3
• XKR4
• XKR5
• XKR6
• XKR7
• XKR8
• XKR9
• XKRX