Evidence map›Paper›PMID 39715844›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society2025

Protein family FAM241 in human and mouse.

Quinlan Doctrove, Young Park, Daniel G Calame, Jacob Kitzman, Guy M Lenk, Miriam H Meisler

Abstract read
In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Quinlan DoctroveNeuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA.
Young ParkDepartment of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA.
Daniel G CalameDepartment of Pediatric Neurology, Baylor College of Medicine, Houston, TX, 77030, USA.
Jacob KitzmanDepartment of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA.
Guy M LenkDepartment of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA.
Miriam H MeislerNeuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA. meislerm@umich.edu.

Funding

Child Neurologist Career Development Program (CNCDP)K12NS098482 · NINDS · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI SCHLAGGAR, BRADLEY L · 2016 to 2025
$26.2M
INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICER01GM024872 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MEISLER, MIRIAM H · 1985 to 2024
$10.7M
University of Michigan Postbaccalaureate Research Education Program (UM PREP)R25GM086262 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ALLEN, BENJAMIN · 2009 to 2024
$6.1M
Muscular Dystrophy Association 873841NIGMS NIH HHS R01 GM024872NIGMS NIH HHS R25 GM086262NIH HHS R01 GM24872NINDS NIH HHS K12 NS098482NINDS NIH HHS K12NS098482
6 · The paper itself

Abstract

FAM241B was isolated in a genome-wide inactivation screen for generation of enlarged lysosomes. FAM241B and FAM241A comprise protein family FAM241 encoding proteins of 121 and 132 amino acid residues, respectively. The proteins exhibit 25% amino acid sequence identity and contain a domain of unknown function (DUF4605; pfam15378) that is conserved from primitive multicellular eukaryotes through vertebrates. Phylogenetic comparison indicates that duplication of the ancestral FAM241B gene occurred prior to the origin of fish. FAM241B has been deleted from the avian lineage. Fam241a and Fam241b are widely expressed in mouse tissues. Experimental knockout of mouse Fam241a, Fam241b, and the double knockout, did not generate a visible phenotype. Knockout of Fam241A and Fam241B did not exacerbate the phenotype of FIG4 null mice. RNAseq of brain RNA from double knockout mice detected reduced expression of several genes including Arke1e1 and RnaseL. The human variant p.Val115Gly in FAM241B was identified in a patient with developmental delay. Lysosome morphology in patient-derived fibroblasts was normal. In previous studies, FAM241A and FAM241B appeared to co-localize with proteins of the endoplasmic reticulum. The molecular function of this ancient protein family remains to be determined.

Indexed as

ProteinsAnimalsHumansLysosomesMiceMice, KnockoutPhylogenyProteinsEvolutionGene familyLysosomeMouse knockout

Identifiers

PMID39715844
PMCPMC11880036

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.