ARCN1

Chr 11

archain 1 coat protein complex I subunit delta

Also known as: COPD, SRMMD, SSMG

NCBI Gene: 372 ENSG00000095139 UniProt: P48444

ARCN1 encodes a component of the coatomer complex that is essential for protein transport between the endoplasmic reticulum and Golgi apparatus and maintains Golgi structural integrity. Mutations cause autosomal dominant short stature-micrognathia syndrome. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.10), indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtShort stature-micrognathia syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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