Target intelligence / Profile preview

Family with sequence similarity 171 member B (FAM171B)

Target
FAM171B
Molecular classification
Single-pass type I membrane protein, Polyglutamine (polyQ) protein, Other (protein family: FAM171)
01

Overview

Family with sequence similarity 171 member B (FAM171B) is a protein encoded by the FAM171B gene, characterized as a single-pass type I membrane and polyglutamine protein[10][2]. It is widely expressed in the brain and nervous system, showing cytoplasmic and vesicular localization, particularly in neurons, and may play a role in vesicle trafficking[2][10]. FAM171B is increasingly recognized as a biomarker for pulmonary arterial hypertension, mediating immune cell infiltration and response in the disease microenvironment, but its precise molecular function remains incompletely understood[4][8][5]. The gene has also been implicated in congenital disorders (gastroschisis, otopalatodigital syndrome) and may be involved in chemoresistance and neurodegenerative mechanisms based on protein family properties[2][6][5]. No drugs are currently known to target FAM171B directly, and its mechanism in therapeutic interventions is not yet established.

Other names
KIAA1946F171B_HUMAN
02

Biological functions

Vesicle trafficking in nervous system cellsMembrane localization and potential synaptic functionImplicated in immune cell infiltration and responseAssociated with chemoresistance in cancer (emerging evidence)Other (function not fully defined)
03

Disease associations

Pulmonary arterial hypertension (biomarker and implicated in immune modulation)Gastroschisis (linked genetically)Otopalatodigital syndrome, type IIAtherosclerosis, arteriosclerotic cardiovascular diseases (from disease ontology analysis)Potential neurodegenerative disease association (polyQ tract proteins)
04

Biomarkers

FAM171B expression levels (biomarker for diagnosis and prognosis in pulmonary arterial hypertension)

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