Recombinant Human Williams-Beuren syndrome chromosomal region 16 protein (WBSCR16)

Uniprot Id

Q96I51

Target Species

Human

Target Name

RCC1L

Target Full Name

RCC1-like G exchanging factor-like protein

Target Function

Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion. Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system.

Target Involvement

WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Target Subcellular Location

Mitochondrion membrane. Mitochondrion inner membrane.

Target Tissue Specificity

Ubiquitous.

Target Synonyms

5730496C04Rik; AU019812; DKFZp434D0421; MGC189739; MGC44931; RCC1-like G exchanging factor-like protein; WBS16_HUMAN; Wbscr16; Williams-Beuren syndrome chromosomal region 16 protein

Target Background

This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants.