HOXB1

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]

Full Name

Homeobox B1

Function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.

Biological Process

Anatomical structure formation involved in morphogenesis Source: Ensembl
Anterior/posterior pattern specification Source: Ensembl
Embryonic skeletal system morphogenesis Source: Ensembl
Facial nerve structural organization Source: Ensembl
Facial nucleus development Source: Ensembl
Pattern specification process Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: NTNU_SB
Regulation of transcription, DNA-templated Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Rhombomere 4 development Source: Ensembl
Rhombomere 5 development Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Facial paresis, hereditary congenital, 3 (HCFP3):
A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus.