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MNDLFH
Chr 19ADzinc finger and BTB domain containing 7A
Also known as: FBI-1, FBI1, LRF, MNDLFH, TIP21, ZBTB7, ZNF857A, pokemon
The MNDLFH protein functions as a transcriptional regulator with SMAD binding activity and transcription corepressor binding activity, and is involved in erythrocyte maturation and regulation of nucleobase metabolism. Mutations cause macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin with autosomal dominant inheritance. This condition affects multiple systems including the nervous system, immune system, and hematopoiesis.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MNDLFH?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MNDLFH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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External Resources
Links to major genomics databases and tools