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You are here: Home / Biomarkers / FAM83H

FAM83H

Basics

Aliases:
This biomarker is also known as:
  • AI3,
  • FLJ46072,
  • Q6ZRV2,
  • FAM83H variant 1,
  • family with sequence similarity 83, member H,
  • protein FAM83H,

Description…

FAM83H is a member of the FAM83 family and plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). Lack of a recognizable signal peptide indicates that the protein functions within the cell. It is expressed in the tooth follicle.

Attributes

QA State: Curated
Type: Protein
Short Name:
HGNC Name: FAM83H

Datasets

There are no datasets associated with this biomarker.

Organs

The following organs have data associated with this biomarker…

Ovary

Attributes

Phase: Two
QA State: Under Review

Overview

FAM83H (FLJ46072) exhibited higher expression in ovarian cancer relative to normal tissues. The expression data is based on whole tissue analysis.

Performance Comment

FAM83H (FLJ46072) was one of 13 genes out of 50 selected for further validation in PMID:21617380. Average expression of FAM83H was significantly higher in epithelial ovarian cancer tumors than any other normal tissue tested.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Biomuta

Mutation Statistics

Gene Name: FAM83H
UniProt Accession #: Q6ZRV2
Mutated Sites Count: 123
Associated Pubmed ID Count 13
CancerDO Count 25
Affected Protein Function Sites Count: 3

View in BioMuta