2024年12月24日 · ABCA13 (ATP Binding Cassette Subfamily A Member 13) is a Protein Coding gene. Diseases associated with ABCA13 include Schizophrenia and Autism Spectrum Disorder. Among its related pathways is Innate Immune System. Gene Ontology (GO) annotations related to this gene include ATP hydrolysis activity and cholesterol transfer activity.

ATP-binding cassette sub-family A member 13 also known as ABCA13 is a protein that in humans is encoded by the ABCA13 gene on chromosome 7. [5] It belongs to the wide ATP-binding cassette family of proteins. The protein contains 5058 residues, and is currently the largest known protein of the ABC family. [6]

Mutations in the ABCA13 gene were reported to increase the susceptibility to schizophrenia, bipolar disorder, and major depression. However, little is known about the molecular functions of ABCA13 or how they associate with psychiatric disorders. Here, we examined the biochemical activity of ABCA13 using HEK293 cells transfected with mouse ABCA13.

2025年2月8日 · ATP-binding cassette transporter 13 mRNA expression level in schizophrenia patients. ABCA13 gene may contain overlapping common genetic risk factors for both major depressive disorder and schizophrenia in the Han Chinese population. Rare missense variants within a single gene, abca13, form yin yang haplotypes.

2020年12月31日 · ABCA13属于一种称为ATP结合盒（ABC）蛋白的细胞转运蛋白家族，它们参与将胆固醇和其他分子移入和移出细胞。 Ueda和他的团队研究ABC蛋白已经有35年的历史，这让他们有了额外的优势来发现被怀疑是这种蛋白家族中最大的ABCA13的神秘作用。 Ueda团队在不同类型的人类细胞中研究了ABCA13。 他们还关闭了小鼠体内编码这种蛋白的基因。 最后，他们研究了人类细胞中发生突变的ABCA13蛋白的影响。 他们发现，ABCA13是一种定位在细胞囊泡中 …

2024年3月1日 · In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids.

2006年4月4日 · A characteristic feature of ABCA13 is the extraordinarily long N-terminal cytoplasmic tail, which is encoded by 30 exons and spans more than 3,500 amino acids. The ABCA13 gene maps to chromosome 7p12.3; this region is genetically linked to Schwachman–Diamond syndrome, a genetic disorder affecting the pancreas, and a locus involved in T-cell ...

2021年1月2日 · abca13属于一种称为atp结合盒（abc）蛋白的细胞转运蛋白家族，它们参与将胆固醇和其他分子移入和移出细胞。ueda和他的团队研究abc蛋白已经有35年的历史，这让他们有了额外的优势来发现被怀疑是这种蛋白家族中最大的abca13的神秘作用。

关于 abca13 Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:48,171,458-48,647,497 (from NCBI) This gene has 8 transcripts (splice variants), 118 orthologues and 11 paralogues.

Located in intracellular vesicle. Is expressed in bone marrow; genitourinary system; and retina. Orthologous to human ABCA13 (ATP binding cassette subfamily A member 13). [provided by Alliance of Genome Resources, Apr 2022]