Gene: MFSD4B

Alternate names for this Gene: KIAA1919|NaGLT1|SLC60A2

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6q21

Description of this Gene: major facilitator superfamily domain containing 4B

Type of Gene: protein-coding

Gene: REV3L

Alternate names for this Gene: POLZ|REV3

Gene Summary: The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome.

Gene is located in Chromosome: 6

Location in Chromosome : 6q21

Description of this Gene: REV3 like, DNA directed polymerase zeta catalytic subunit

Type of Gene: protein-coding

rs17072594 in MFSD4B;REV3L gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs458017 in MFSD4B;REV3L gene and Arthritis, Psoriatic PMID 30552173 2019 Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.

rs1057519367 in MFSD4B;REV3L gene and Colorectal Carcinoma PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

rs240993 in MFSD4B;REV3L gene and Psoriasis PMID 20953190 2010 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

PMID 25903422 2015 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.

PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

rs17072594 in MFSD4B;REV3L gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1002475 in MFSD4B;REV3L gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.