TMTC4


Description

The TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4) is a protein-coding gene located on chromosome 13.

TMTC4 is a human protein encoded by the TMTC4 gene. This protein traverses the plasma membrane ten times, residing in the endoplasmic reticulum lumen and cytosol. The structure of TMTC4 consists of a series of alpha-helices. The gene for TMTC4 is found on chromosome 13 at position 13q32.3, spanning 4043 base pairs and containing 23 exons. It is located between the genes ARF4P3 and RPS26P47. Seven isoforms of TMTC4 mRNA exist, with the most common being isoform 1 at 4043 base pairs. The 5' UTR of TMTC4 is short, while the 3' UTR is long. TMTC4 has a molecular weight of 85.0 kDa and lacks any unusual clusters of amino acids or charge runs.

TMTC4 acts as an O-mannosyltransferase, transferring mannose sugars to the hydroxyl groups of serine or threonine residues. This enzyme primarily targets cadherin proteins, a large family of cell adhesion molecules, modifying specific regions with O-linked mannose glycans. Each member of the TMTC family, including TMTC4, appears to have a unique role in this process, contributing to the diversity of cadherin glycosylation. In addition to cadherins, TMTC4 can also attach mannose sugars to other proteins, such as PDIA3.

TMTC4 is also known as DFNB122.

Associated Diseases



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