Gene: C12orf57

Alternate names for this Gene: C10|GRCC10

Gene Summary: This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: chromosome 12 open reading frame 57

Type of Gene: protein-coding

Gene: PTPN6

Alternate names for this Gene: HCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1

Gene Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: protein tyrosine phosphatase non-receptor type 6

Type of Gene: protein-coding