ZMYND19

Chr 9

zinc finger MYND-type containing 19

Also known as: MIZIP

NCBI Gene: 116225 ENSG00000165724 UniProt: Q96E35

The ZMYND19 protein contains a MYND zinc finger domain and binds to melanin-concentrating hormone receptor-1 as well as alpha- and beta-tubulin, potentially serving as a regulatory molecule in MCH receptor signaling. Mutations cause autosomal recessive intellectual disability with neurological features. The gene is highly constrained against loss-of-function variants, indicating its essential role in normal development.

ResearchSummary from RefSeq, UniProt

ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

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Mechanism

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