DZANK1

Chr 20

double zinc ribbon and ankyrin repeat domains 1

Also known as: ANKRD64, C20orf12, C20orf84

NCBI Gene: 55184 ENSG00000089091 UniProt: Q9NVP4 OMIM: 620905

The DZANK1 protein contains ankyrin repeat domains that mediate protein-protein interactions and is involved in vesicle transport in photoreceptor cells. Mutations cause autosomal recessive retinal dystrophy with early childhood onset, leading to progressive vision loss. This gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. [provided by RefSeq, Dec 2018]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.17

LOEUF

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Mechanism