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NCR2 (NKp44) is a member of the natural cytotoxicity receptor (NCR) family that is expressed on activated human NK cells. NCR2 displays a single extracellular Ig-like V domain and a transmembrane portion containing the charged residue (Lysine), likely involved in the association with KARAP/DAP12 molecules. Gene coding for NCR2 maps on human chromosome 6p21.1

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul

HEAB is a 425 amino acid nuclear protein that belongs to the Clp1 family. Utilizing magnesium, manganese or nickel as cofactors, HEAB participates in the phosphorylation of the 5'-hydroxyl groups of double- and single- stranded RNA and DNA. HEAB is a member of the tRNA splicing endonuclease complex, in conjunction with TSEN2, TSEN15, TSEN34 and TSEN54, and is also a member of the pre-mRNA cleavage complex II. The gene encoding HEAB maps to human chromosome 11q12.1 and mouse chromosome 2 D

Contactin 4 is a 1,026 amino acid protein encoded by the human gene CNTN4. Contactin 4 belongs to the immunoglobulin superfamily and is a member of the Contactin family. Contactin 4 contains four fibronectin type-3 domains, six Ig-like C2-type domains, and has three isoforms (1,2,3). Defects in the CNTN4 gene are a cause of 3p deletion syndrome (3PDS). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and is characterized by

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]