EML1

Chr 14

EMAP like 1

Also known as: BH, ELP79, EMAP, EMAP-1, EMAPL

NCBI Gene: 2009 ENSG00000066629 UniProt: O00423

The EML1 protein modulates microtubule cytoskeleton assembly and organization, regulates mitotic spindle orientation, and is required for normal neuronal progenitor cell proliferation during brain development. Mutations cause band heterotopia (a neuronal migration disorder) with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating its critical role in normal development.

ResearchSummary from RefSeq, OMIM, UniProt

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBand heterotopia

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · band heterotopia of brain · AR · ClinGen 2025

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in EML1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 90

862 rare PASS variants

Rare truncating (LoF)

1 in 1,500

97 rare PASS variants

Rare synonymous (reference)

1 in 92

385 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for EML1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 2,200
South Asian	~43k	1 in 78	1 in 1,500
Remaining (unassigned)	~30k	1 in 84	1 in 650
European (Finnish)	~27k	1 in 230	1 in 2,800
Admixed American	~22k	1 in 67	1 in 3,700
African / African American	~21k	1 in 71	1 in 1,800
East Asian	~20k	1 in 88	1 in 740
Ashkenazi Jewish	~13k	1 in 180	1 in 910
Middle Eastern	~2,884	1 in 79	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 21 of 22 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: 21 of 22 (exon 1 below).? see exons ↓