Ask about this productRelated genes to: SLC4A1 antibody
- Gene:
- SLC4A1 NIH gene
- Name:
- solute carrier family 4 member 1 (Diego blood group)
- Previous symbol:
- EPB3, AE1, DI, WD
- Synonyms:
- RTA1A, CD233, FR, SW, WR
- Chromosome:
- 17q21.31
- Locus Type:
- gene with protein product
- Date approved:
- 1988-04-20
- Date modifiied:
- 2019-04-23
Related products to: SLC4A1 antibody
Related articles to: SLC4A1 antibody
- - Source: PubMed
Publication date: 2026/05/01
Helmi Muhd Alwi MuhdAbdullah Nor ZamzilaOmar Ahmad MarzukiRahim Nour El Huda AbdTalib Norlelawati A - To characterize the clinical and genetic profiles of patients with hereditary spherocytosis (HS) and report novel mutations. This retrospective study included 55 patients (25 males, 30 females; median age 9 years) with HS admitted between 2016 and 2023. Clinical and laboratory data were analyzed. Targeted next-generation sequencing was performed to detect pathogenic mutations. Comparisons were made using Student's t-test or Mann-Whitney U test. Anemia was present in 53 patients, including 31 with moderate-to-severe anemia; 40 exhibited splenomegaly or gallstones. A total of 60 variants were identified, of which 46 (76.7%) were novel. The most frequently involved genes were ANK1 (28, 50.9%), SPTB (17, 30.9%), SLC4A1 (10, 18.2%), and SPTA1 (2, 3.6%). Patients aged ≤ 3 years (n = 23) showed significantly lower red blood cell counts, hemoglobin levels, and absolute reticulocyte counts than those aged > 3 years (n = 32) (all P < 0.05), whereas no significant phenotypic differences were observed across mutation types. Younger patients with HS exhibited more severe anemia. ANK1 and SPTB were the predominant pathogenic genes, with no notable phenotypic differences between these two genotypes. The identification of 46 novel mutations expands the mutational spectrum of HS. - Source: PubMed
Publication date: 2026/05/13
Shu HuiyingYang LiqingGao YuYun XuexueZhou MinGong Yuping - Hemoglobin A1c (HbA1c) is a critical biomarker used for the diagnosis and management of diabetes. However, nonglycemic genetic variations may affect the accuracy of HbA1c measurements. - Source: PubMed
Publication date: 2026/04/14
Ye LiliRen QianBa TianhaoWu JingHan XueyaoJi Linong - Hereditary spherocytosis (HS) is a genetically and clinically diverse red cell membrane disorder, with limited clinical and molecular data on pediatric patients from India. - Source: PubMed
Publication date: 2026/04/23
Chakraborty AnkitaKalra ManasSachdeva AnupamKotwal JyotiLanger SabinaSaraf AmritaRana PallaviDahiya SurbhiArya VandanaAggarwal SatishPrasad Alpana - - Source: PubMed
Publication date: 2026/04/06
Nunnelee Jordan SZhang XiGodby Richard C