Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.
Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene. RHCE has also recently been designated CD240CE.
Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.
Mesoderm-specific transcript homolog protein is a protein that in humans is encoded by the MEST gene.
Myosin-11 is a protein that in humans is encoded by the MYH11 gene.
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.
Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the LAT2 gene.
Rhombotin-1 is a protein that in humans is encoded by the LMO1 gene.
Phosphofructokinase, platelet, also known as PFKP is an enzyme which in humans is encoded by the PFKP gene.
Immunoglobulin heavy locus, also known as IGH, is a region on human chromosome 14 that contains a gene for the heavy chains of human antibodies.
Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.
B-cell maturation antigen, also known as tumor necrosis factor receptor superfamily member 17 (TNFRSF17), is a protein that in humans is encoded by the TNFRSF17 gene.
T-cell leukemia homeobox protein 3 is a protein that in humans is encoded by the TLX3 gene.
Proline-rich protein PRCC is a protein that, in humans, is encoded by the PRCC gene.
Probable ATP-dependent RNA helicase DDX10 is an enzyme that in humans is encoded by the DDX10 gene.
Histone-lysine N-methyltransferase NSD3 is an enzyme that in humans is encoded by the WHSC1L1 gene.
Zinc finger protein 41 is a protein that in humans is encoded by the ZNF41 gene.
T-cell acute lymphocytic leukemia 2, also known as TAL2, is a protein which in humans is encoded by the TAL2 gene.
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
t(11;14) is a chromosomal translocation which essentially always involves the immunoglobulin heavy locus, also known as IGH in the q32 region of chromosome 14, as well as cyclin D1 which is located in the q13 of chromosome 11. Specifically, the translocation is at t(11;14)(q13;q32).
