HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase)

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Keyword

Gene: HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase) Homo sapiens

Symbol:

HMGCL

Name:

3-hydroxymethyl-3-methylglutaryl-CoA lyase

Description:

The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl coa lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria); HL; HMG-CoA lyase; hydroxymethylglutaricaciduria; hydroxymethylglutaryl-CoA lyase, mitochondrial; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase; OTTHUMP00000003004; OTTHUMP00000003005; OTTHUMP00000223529; OTTHUMP00000223530

Orthologs:

Mus musculus : Hmgcl (3-hydroxy-3-methylglutaryl-Coenzyme A lyase) MGI
Rattus norvegicus : Hmgcl (3-hydroxymethyl-3-methylglutaryl-CoA lyase)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	1	24,342,444 - 24,366,107	-	NCBI
Human Genome Assembly HuRef	1	22,379,944 - 22,403,530	-	NCBI
Human Genome Assembly GRCh37	1	24,128,367 - 24,151,949	-	NCBI
Human Genome Assembly Build 36	1	24,000,954 - 24,024,536	-	NCBI
Human Cytogenetic Map	1	p36.1-p35		NCBI
Human Genome Assembly	1	23,873,682 - 23,897,218		NCBI