Identifizierung und Charakterisierung von neuen Genen für die ...

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“Neural Cell Adhesion Molecule L1, CAML1. Hydrocephalus due to aqueductal stenosis / MASA
syndrome. The L1 cell adhesion molecule is one of a subgroup of structurally related integral membrane
glycoproteins belonging to a large class of immunoglobulin superfamily cell adhesion molecules (CAMs)
that mediate cell-to-cell adhesion at the cell surface. L1CAM is found primarily in the nervous system of
several species and may be more aptly called a neural recognition molecule. Functions of L1CAM,
including guidance of neurite outgrowth in development, neuronal cell migration, axon bundling,
synaptogenesis, myelination, neuronal cell survival, and long-term potentiation.
Spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The
features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). The adducted
thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In
affected males, the onset of speech is delayed”.
“Severe combined immunodeficiency (SCID), X-linked. The IL2RG gene encodes the gamma subunit of
the interleukin-2 receptor (IL2R). Interleukin-2 (IL2) affects the growth and differentiation of T cells, B
cells, natural killer cells, glioma cells, and cells of the monocyte lineage after specifically interacting with
its receptors, earlier age at death, vulnerability to viral and fungal as well as bacterial infections, lack of
delayed hypersensitivity, atrophy of the thymus, and lack of benefit from gamma globulin administration.”
“B30.2-like / Butyrophylin / SPRY –Domain”:
“The B30.2-like domain is a conserved domain of 160-170 amino acids which is found in nuclear and
cytoplasmic proteins, as well as transmembrane and secreted proteins. It was named after the B30-2 exon
which maps within the human class I histocompatibility complex region and codes for a 166-amino-acid
peptide similar to the C-terminal domain of human Sjoegren's syndrome nuclear antigen A/Ro (SS-
A/Ro) and ret finger protein (RFP), Xenopus laevis nuclear factor 7 (XNF7), and Bos taurus
butyrophilin. The B30.2-like domain is found associated with different N-terminal domains:
immunoglobulin domain in the case of butyrophilin, zinc-binding B-box domain in the case of RFP and
SS-A/Ro and leucine zipper in the case of enterophilin. The function of the B30.2-like domain is not
known, but the cytoplasmic B30.2-like domain of butyrophilin has been shown to interact with xanthine
oxidase”.
“A group of proteins that contain the B-box motif also host a well conserved domain of unknown
function (DUF). The C-terminal portion of this region has been termed the SPRY domain (after SPla and
the RYanodine Receptor)”.