IGBP1 gene

immunoglobulin (CD79A) binding protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]

From UniProt:

Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits.

From NCBI Gene:

  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia

From UniProt:

Mental retardation, X-linked, syndromic, 28 (MRXS28): A mental retardation syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:300472]

Cytogenetic Location: Xq13.1-q13.3, which is the long (q) arm of the X chromosome between positions 13.1 and 13.3

Molecular Location: base pairs 70,133,449 to 70,166,324 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq13.1-q13.3, which is the long (q) arm of the X chromosome between positions 13.1 and 13.3
  • ALPHA-4
  • IBP1