ARL14EP Chromosome 11

ARF like GTPase 14 effector protein

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]

Associated Conditions (4)

Global developmental delay

Abnormal facial shape

Truncal obesity

Microcephaly

Key Variants

RS730882201

Likely pathogenic

Global developmental delay, Abnormal facial shape, Truncal obesity

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS730882201	Health Risk	Likely pathogenic	Global developmental delay, Abnormal facial shape, Truncal obesity