Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation

Article Abstract:

The underlying genetic defect reported in a family with an X-linked mental retardation syndrome is evaluated. The results have described the functional significance of CUL4B, which encodes a scaffold protein that organizes a cullin-RING (really interesting new gene) ubiquitin ligase (E3) complex in ubiquitylation, in cognition and in other aspects of human development.

Fragile X syndrome, Codon, Codons, Ubiquitin-proteasome system, Report

---

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Article Abstract:

Two truncating, two splice-site and three missense variants are identified at conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental retardation (XLMR). CUL4B is an ubiquitin E3 ligase subunit implicated in the regulation of biological processes and CUL4B is the first XLMR gene that encodes an E3 ubiquitin ligase.

United Kingdom

---

UBE2A, which encodes an ubiquitin-conjugating enzyme, is mutated in novel x-linked mental retardation syndrome

Article Abstract:

A mutation of UBE2A/HR6A, which encodes an ubiquitin-conjugating enzyme (E2), a member of the ubiquitin proteasome pathway, as the cause of a novel X-linked mental retardation (XLMR) syndrome that affects three males in a two-generation family is reported. It is observed that UBE2A mutations do not appear to significantly contribute to XLMR.

Ubiquitin, Clinical report

Similar abstracts:

• Abstracts: Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause x-linked mental retardation associated with a marfanoid habitus
• Abstracts: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
• Abstracts: Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
• Abstracts: A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples
• Abstracts: A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. part 2

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.