background:
DENND2D is a 471 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as two isoforms as a result of alternative splicing. The DENND2D protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2D maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome.
Function:
Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
Similarity:
Contains 1 dDENN domain.
Contains 1 DENN domain.
Contains 1 uDENN domain.
Database links:
UniProtKB/Swiss-Prot: Q9H6A0.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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