background:
Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding SLCtype lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The FAM62A gene product has been provisionally designated FAM62A pending further characterization.
Function:
May play a role as calcium-regulated intrinsic membrane protein.
Subcellular Location:
Membrane. Localizes to intracellular membranes.
Tissue Specificity:
Widely expressed.
Similarity:
Belongs to the extended synaptotagmin family.
Contains 5 C2 domains.
Database links:
Entrez Gene: 23344 Human
Entrez Gene: 520669 Cow
Entrez Gene: 100051975 Horse
Entrez Gene: 23943 Mouse
Entrez Gene: 100343457 Rabbit
Entrez Gene: 29579 Rat
SwissProt: Q9BSJ8 Human
SwissProt: Q3U7R1 Mouse
SwissProt: Q5RAG2 Orangutan
SwissProt: Q9Z1X1 Rat
Unigene: 632729 Human
Unigene: 66056 Mouse
Unigene: 11636 Rat
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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