RecName: Full=Class A basic helix-loop-helix protein 9; Short=bHLHa9; - Protein

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SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably. [Orphanet J Rare Dis. 2022]
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.
Bukowska-Olech E, Sowińska-Seidler A, Wierzba J, Jamsheer A. Orphanet J Rare Dis. 2022 Aug 26; 17(1):325. Epub 2022 Aug 26.
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly. [Congenit Anom (Kyoto). 2021]
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly.
Sedighzadeh SS, Sedaghat A, Zamani M, Seifi T, Shariati G, Zeighami J, Mazaheri N, Galehdari H. Congenit Anom (Kyoto). 2021 Nov; 61(6):220-225. Epub 2021 Aug 8.
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. [BMC Med Genet. 2019]
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW. BMC Med Genet. 2019 Jun 14; 20(1):108. Epub 2019 Jun 14.

RefSeq genomic sequence
See the genomic reference sequence for the BHLHA9 gene (NG_042055.1).
RefSeq protein
See the reference protein sequence for class A basic helix-loop-helix protein 9 (NP_001157877.1).

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Related structures

Q7RTU4 [Domain Mapping of Disease Mut...]
Q7RTU4
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Class A basic helix-loop-helix protein 9; Short=bHLHa9; AltName: F...
RecName: Full=Class A basic helix-loop-helix protein 9; Short=bHLHa9; AltName: Full=Class F basic helix-loop-helix factor 42; Short=bHLHf42
gi|190358730|sp|Q7RTU4.2|BHA09_HUMA

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