MLXIPL Gene: Function, Mutation, and Cellular Location

Genetics

Table of Contents
INTRODUCTION...........................................................................................................................1
MAIN BODY...................................................................................................................................1
Overview of MLXIPL............................................................................................................1
Mutation in MLXIPL and Williams-Beuren syndrome.........................................................2
Cellular location of MLXIPL.................................................................................................2
Protein detail for MLXIPL gene.............................................................................................3
Mouse study (Orthologs)........................................................................................................4
CONCLUSION................................................................................................................................5
REFERENCES................................................................................................................................6

INTRODUCTION
Genetics is defined as the scientific study of gene and heredity that based on trait and
qualities which is passed from one generation to others as the outcome of change in DNA
sequence. The gene is referring as segment of DNA that contains instruction for building one and
more compound that is based on molecule that usually help to body for their assign functions. In
this report, the major of study is well related gene named MLXIPL, therefore, the result covers
the short description that may include the function of protein and tissue which is expressed that
they cause any disease (Ali and et. al., 2022). The number of exon and size of gene is determined
with proper evidence of alternative splicing. It is also show the accession number for mRNA
sequence, protein sequence, mRNA transcript and size of protein with number of amino acid. In
this, it is also analysed that the gene is well structured in order to maintain proper information
with the correspondence to disease that occurred (Charifi and et. al., 2021).
MAIN BODY
Overview of MLXIPL
MLXIPL is also named as MLX interacting protein like. In addition, the organism belongs
with species name of Homo Sapiens. Therefore, summary is useful in order to provide the gene
encodes which is act as basic helix loop helix leucine zipper transcription factor of the
Myc/Max/Mad superfamily. The protein forms a heterodimeric complex and bind usually
activates, in glucose dependent manner, the carbohydrate response and their element are used to
taken place that is ChoRE motifs in the promoter of triglyceride synthesis gene (Chen and et. al.,
2021). Moreover, the gene is well deleted in William –Beuren syndrome which is refer as
multisystem developmental disorder that is usually causes due to the deletion of contiguous gene
at the number of chromosome that is 7q11.23. Therefore, alternative splicing result in multiple
variant that is based on their transcript. In the context with the determined expression it is well
analyse that they have biased expression in fat which is analysed as RPKM 35.0 and in liver it
shows the presence that is RPKM 27.7 and other 8 tissue.
In context with accession which is based on two form that is primary and secondary
accession. In addition, the primary accession which is showing the Q9NP71 and associated
secondary accession which is C5HU02, C5HU03, C5HU04, Q96E48, Q96E48, Q9BY03,
Q9BY04, Q9BY05, Q9BY06 and Q9Y2P3 (Guo, Lu, and Xiong, 2021).
1