Genetic Disorder: Argininosuccinic Aciduria Official full name of the gene responsible for the disorder: Mutations of...

Genetic Disorder: Argininosuccinic Aciduria

Official full name of the gene responsible for the disorder:	Mutations of the Argininosuccinate lyase (ASL) gene is what leads to Argininosuccinic Aciduria disorder. The mutations occur from a lack of deficiency from enzymes.
Official Gene Symbol:	ASL
GenBank Accession Number:	Entrez Gene: 435
Coding sequence:	.
CDS length:
Amino acid sequence:
Amino acid length of protein:
Function of the normal/non-mutated protein:
Mutations implicated in causing the disorder:
Impact of mutations on the structure and/or functioning of the protein:

References:

Expert Solution

Genetic Disorder: Argininosuccinic Aciduria

Official full name of the gene responsible for the disorder:	Mutations of the Argininosuccinate lyase (ASL) gene is what leads to Argininosuccinic Aciduria disorder. The mutations occur from a lack of deficiency from enzymes.
Official Gene Symbol:	ASL
GenBank Accession Number:	NG_009288.1
Coding sequence:	264..275,5985..6179,6550..6633,7062..7118,7259..7356, 10767..10844,10926..11003,11516..11568,11911..11973, 12989..13103,13273..13357,13458..13517,13794..13877, 16188..16268,16739..16845,16950..17094
CDS length:	1395 nt
Amino acid sequence:	"MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKA YSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGA TAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH LQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRA ELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDA YSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFE VSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASG KAVFMAETKGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDW QIRQVRALLQAQQA
Amino acid length of protein:	464
Function of the normal/non-mutated protein:	This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle.
Mutations implicated in causing the disorder:	Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22.
Impact of mutations on the structure and/or functioning of the protein:	Protein does not fold and interact with substrate properly

References: NCBI genbank

gladiator answered 1 year ago

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