TRAPPC9

Chr 8

trafficking protein particle complex subunit 9

Also known as: IBP, IKBKBBP, MRT13, NIBP, T1, TRS120

NCBI Gene: 83696 ENSG00000167632 UniProt: Q96Q05

The protein encoded by this gene localizes to the Golgi apparatus and cis-Golgi network and likely functions in NF-kappa-B signaling. Mutations cause autosomal recessive intellectual developmental disorder (type 13). The inheritance pattern is autosomal recessive.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 13

Clinical highlights

Gene-disease validity (ClinGen)

intellectual disability-obesity-brain malformations-facial dysmorphism syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.73

LOEUF

LOF

Mechanism· G2P

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