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TBC1D24 |
Gene Facts External Data Attribution
- HGNC Symbol
- TBC1D24 (HGNC:29203) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- TBC1 domain family member 24
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNB86
- Alias symbols
- KIAA1171, TLDC6, DFNA65
- %HI
- 55.45(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.22(Read more about gnomAD LOEUF score)
- Cytoband
- 16p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr16:2525128-2555731 NCBI Ensembl UCSC GRCh38/hg38: chr16:2475127-2505730 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001199107.2 ENST00000646147.1 (Read more about MANE Select)
- Function
- May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402). {ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:20797691, ECO:0000269|PubMed:31257402}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6106
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)
