Background One of the main causes of male infertility is defect in structure and function of sperm cells. Infertile men with oligoasthenoteratospermia (OAT) defect, have sperms with abnormalities in count, motility and morphology. Patients with immotile short tail sperm (ISTS) disorder have immotile short-tailed sperm with disorganized axonem, and a significant decrease in sperm counts. Numerou...

Two closely related genes have been identified at 2q13 and 22q13.3. These genes show similarity to members of the RAB family of small GTPases. RABL2A and RABL2B differ by three conservative amino acid changes over a total of 228 residues. Both are expressed in all tissues tested. Northern analysis showed that a 2.5-kb transcript is expressed in all tissues tested while a 1.4-kb transcript is sp...

Background ISTS defect in which sperm tail is short and fibrous sheath and axoneme are disorganized, is one of the syndromes that cause male infertility. Although a few studies have been done in this regard, its exact etiology in human is unclear yet. Four candidate genes causing ISTS are SPEF2, RABL2B, and A-kinas anchoring proteins genes (AKAP3 and AKAP4). Proteins which coded by SPEF2 and RA...

M ammalian sperm have a specialized motile flagellum to provide the unidirectional propulsion required to achieve fertilisation of the egg. Defective flagella development and/or function is a significant cause of reduced sperm motility (asthenospermia) and male infertility. Over the past decade, a growing number of distinct proteins with crucial roles in sperm flagella have been identified by g...

Splicing generates mature transcripts from genes in pieces in eukaryotic cells. Overwhelming evidence has accumulated that alternative routes in splicing are possible for most human and mammalian genes, thereby allowing formation of different transcripts from one gene. No function has been assigned to the majority of identified alternative splice forms, and it has been assumed that they compose...

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of K...