NEDMLHB

Chr 6AR

TATA-box binding protein associated factor 8

Also known as: II, NEDMLHB, TAF, TAF(II)43, TAFII-43, TAFII43, TBN

NCBI Gene: 129685

This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyMIM #619972
AR
0
ClinVar variants
0
Pathogenic / LP
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pLI score
0
Active trials
Clinical Summary— NEDMLHB
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDMLHB?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

NEDMLHB · 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 severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

MIM #619972

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — NEDMLHB
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
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Clinical Literature
Landmark / reviewRecent case evidence

No publications found for NEDMLHB

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