DENND5A gene

DENN domain containing 5A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]

From UniProt:

Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth.

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 49

From UniProt:

Epileptic encephalopathy, early infantile, 49 (EIEE49): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. [MIM:617281]

Cytogenetic Location: 11p15.4, which is the short (p) arm of chromosome 11 at position 15.4

Molecular Location: base pairs 9,138,825 to 9,265,335 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.4, which is the short (p) arm of chromosome 11 at position 15.4
  • EIEE49
  • RAB6IP1