Sequence in raw or FASTA format:
LBR lamin B receptor [Homo sapiens (human)]
|Entrez Gene ID||3930|
|Full Name||lamin B receptor|
|Synonyms||DHCR14B, LMN2R, PHA, TDRD18|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].|
Pelger-Huet anomaly, 169400 (3); HEM skeletal dysplasia, 215140 (3);
|WP2363||Gastric cancer network 2|
|META_PWY66-341||cholesterol biosynthesis I|
|META_PWY66-5||superpathway of cholesterol biosynthesis|
|META_PWY66-3||cholesterol biosynthesis II (via 24,25-dihydrolanosterol)|
|META_PWY66-4||cholesterol biosynthesis III (via desmosterol)|
|HUMAN_PWY66-5||superpathway of cholesterol biosynthesis|
|HUMAN_PWY66-341||cholesterol biosynthesis I|
|HUMAN_PWY66-3||cholesterol biosynthesis II (via 24,25-dihydrolanosterol)|
|HUMAN_PWY66-4||cholesterol biosynthesis III (via desmosterol)|
|REACT_22258||Metabolism of lipids and lipoproteins|
|Homo sapiens (human)||LBR||NP_919424.1|
|Pan troglodytes (chimpanzee)||LBR||XP_001137563.1|
|Macaca mulatta (Rhesus monkey)||LBR||XP_001094360.1|
|Canis lupus familiaris (dog)||LBR||XP_547512.2|
|Bos taurus (cattle)||LBR||NP_001093799.1|
|Mus musculus (house mouse)||Lbr||NP_598576.2|
|Rattus norvegicus (Norway rat)||Lbr||NP_604448.1|
|Gallus gallus (chicken)||LBR||NP_990673.1|
|Danio rerio (zebrafish)||lbr||NP_001002720.1|
|Drosophila melanogaster (fruit fly)||LBR||NP_726115.1|
|GO:0006695||cholesterol biosynthetic process||TAS|
|GO:0044281||small molecule metabolic process||TAS|
|GO:0005639||integral component of nuclear inner membrane||TAS|
|GO:0016021||integral component of membrane||IDA|
|GO:0016628||oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor||IEA|
|GO:0044822||poly(A) RNA binding||IDA|
|GO:0070087||chromo shadow domain binding||IPI|
What is the normal function of the LBR gene?
The LBR gene provides instructions for making a protein called the lamin B receptor. Different regions (domains) of this protein give it two distinct functions.
One region of the protein, called the sterol reductase domain, gives the protein sterol reductase function (specifically Δ14-sterol reductase function). This function of the lamin B receptor plays an important role in the production (synthesis) of cholesterol. Cholesterol is a lipid (fat) that is obtained from foods that come from animals: eggs, meat, fish, and dairy products. The body also makes (synthesizes) its own cholesterol. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows the protein to perform one of several chemical reactions that convert a molecule called lanosterol to cholesterol.
The body needs cholesterol to develop and function normally. Before birth, cholesterol interacts with signaling proteins that control early development of the brain, limbs, genitals, and other structures. It is also an important component of cell membranes and myelin, the fatty covering that insulates nerve cells. Additionally, cholesterol is used to make certain hormones and is important for the production of acids used in digestion (bile acids).
Another region of the lamin B receptor, called the DNA-binding domain, attaches (binds) to chromatin, the complex of DNA and proteins that packages DNA into chromosomes. The lamin B receptor can be found in the membrane that surrounds the nucleus (the nuclear envelope). The protein's interaction with chromatin attaches it to the nuclear envelope and helps maintain the chromatin's structure. Proper interaction of chromatin with the nuclear envelope may play a role in several important cellular functions such as making new copies of DNA (replication), controlling the activity of genes, and regulating programmed cell death (apoptosis). The DNA-binding domain of the protein also plays a role in the formation of the nucleus within cells.
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