background:
MDH1B is a 518 amino acid protein that belongs to the MDH type 2 family and LDH/MDH superfamily. Existing as three alternatively spliced isoforms, the gene encoding MDH1B maps to human chromosome 2q33.3. Chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr鰉 syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
Function:
MDH1B has been detected at the transcript level and is part of the malate dehydrogenase superfamily.
Subcellular Location:
Cytoplasmic
Database links:
Entrez Gene: 130752 Human
SwissProt: Q5I0G3 Human
Unigene: 147816 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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