NEDFLPH

Chr 19AR

transmembrane protein 147

Also known as: NEDFLPH, NIFIE14

NCBI Gene: 10430

Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomalyMIM #620075
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— NEDFLPH
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDFLPH?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEDFLPH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly

MIM #620075

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for NEDFLPH

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools