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Family with sequence similarity 167 member A (FAM167A)

Target: FAM167A
Molecular classification: Other (DIORA protein, characterized by intrinsic disorder and lacking known structural motifs or functional domains)

Overview

Family with sequence similarity 167 member A (FAM167A; also DIORA-1) is a protein-coding gene located on chromosome 8p23.1, highly conserved across vertebrates and mainly expressed in immune cell subsets like B cells and lung tissue[2][3][4]. The protein product is intrinsically disordered, lacking known structural motifs or catalytic domains, and it contains a domain of unknown function (DUF3259)[3][4]. Genetic variations in the FAM167A region are strongly associated with increased risk for several autoimmune diseases, particularly those involving B cell dysregulation, and it interacts with other immune-related proteins such as BLK and BANK1[2][3][4]. Despite its evident role in disease risk, its exact molecular and cellular function remains uncharacterized; current evidence implies involvement in immune response regulation, possibly impacting autoimmunity by influencing nearby immune genes[3][4].

Other names: FAM167AC8orf13D8S265DIORA-1

Biological functions

Immune response (its locus and expression are involved in autoimmune diseases)Other (exact molecular mechanisms are unknown; hypothesized to play a role in disease pathogenesis by interacting with nearby immune-related genes)

Disease associations

Autoimmune disease (rheumatoid arthritis, SLE, Sjögren's syndrome, systemic sclerosis)Other (Maturity-Onset Diabetes Of The Young, Type 11; Keratolytic Winter Erythema)

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