HOXA11

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq]

Full Name

homeobox A11

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.

Biological Process

Anatomical structure development Source: GO_Central
Anatomical structure morphogenesis Source: ProtInc
Anterior/posterior pattern specification Source: Ensembl
Branching involved in ureteric bud morphogenesis Source: UniProtKB
Cartilage development involved in endochondral bone morphogenesis Source: UniProtKB
Developmental growth Source: UniProtKB
Dorsal/ventral pattern formation Source: UniProtKB
Embryonic digit morphogenesis Source: Ensembl
Embryonic forelimb morphogenesis Source: Ensembl
Embryonic limb morphogenesis Source: UniProtKB
Embryonic skeletal joint morphogenesis Source: Ensembl
Male gonad development Source: Ensembl
Mesodermal cell fate specification Source: UniProtKB
Metanephros development Source: Ensembl
Organ induction Source: Ensembl
Positive regulation of cell development Source: UniProtKB
Positive regulation of chondrocyte differentiation Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Prostate gland development Source: Ensembl
Proximal/distal pattern formation Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to estrogen Source: Ensembl
Response to testosterone Source: Ensembl
Single fertilization Source: Ensembl
Skeletal system development Source: UniProtKB
Spermatogenesis Source: Ensembl
Uterus development Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1):
The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation.