GPRASP3

Chr X

G protein-coupled receptor associated sorting protein family member 3

Also known as: BHLHB9, GASP3, p60TRP

NCBI Gene: 80823 ENSG00000198908 UniProt: Q6PI77 OMIM: 300921

The encoded protein promotes neuronal survival and differentiation and regulates neurosynaptogenesis by inducing phosphatase PP2A activity, which leads to APP dephosphorylation and inhibits BACE1-mediated APP processing. Mutations in GPRASP3 cause autosomal recessive neurodevelopmental disorders affecting the central nervous system. The gene shows relatively low constraint to loss-of-function variation.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

LOEUF

GOF

Mechanism· predicted