BHLHA9 gene

basic helix-loop-helix family member a9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]

From UniProt:

Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis.

From NCBI Gene:

  • Camptosynpolydactyly, complex
  • Syndactyly type 9

From UniProt:

Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD): An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes. [MIM:609432]

Split-hand/foot malformation with long bone deficiency 3 (SHFLD3): A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. [MIM:612576]

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3

Molecular Location: base pairs 1,270,564 to 1,271,271 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.3, which is the short (p) arm of chromosome 17 at position 13.3
  • BHLHF42
  • CCSPD