LMX1B
Encyclopedia
LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein
which in humans is encoded by the LMX1B gene
.
homeobox
transcription factor
which plays a central role in dorso-ventral patterning of the vertebrate limb.
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Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the LMX1B gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
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Function
LMX1B is a LIMLIM domain
LIM domains are protein structural domains, composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. They are named after their initial discovery in the proteins Lin11, Isl-1 & Mec-3. LIM-domain containing proteins have been shown to play roles in...
homeobox
Homeobox
A homeobox is a DNA sequence found within genes that are involved in the regulation of patterns of anatomical development in animals, fungi and plants.- Discovery :...
transcription factor
Transcription factor
In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...
which plays a central role in dorso-ventral patterning of the vertebrate limb.
Clinical signficance
Mutations in the LMX1B gene are associated with the Nail-patella syndromeNail-patella syndrome
Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail-patella" can be very misleading because the syndrome often affects many other areas of the...
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