Primary Identifier | MGI:1344418 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 23991 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein-membrane adaptor activity and transmembrane transporter binding activity. Involved in several processes, including negative regulation of megakaryocyte differentiation; regulation of intracellular signal transduction; and regulation of protein phosphorylation. Located in cytoplasm and sarcolemma. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and liver and biliary system. Human ortholog(s) of this gene implicated in epidermodysplasia verruciformis. Orthologous to human CIB1 (calcium and integrin binding 1). PHENOTYPE: Homozygous mutation of this gene results in male infertility due to disruption of the haploid phase of spermatogenesis and is associated with small testis size and loss of elongated spermatids and sperm. [provided by MGI curators] |