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  2. HMGCLL1 - 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 Gene

HMGCLL1 - 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 Gene

Homo sapiens

Also known as ERCHL; er-cHL; bA418P12.1

Gene ID: 54511 | Gene type: protein coding

About HMGCLL1

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:55,434,373-55,678,919 (from NCBI)

This gene has 9 transcripts (splice variants), 198 orthologues and 1 paralogue. Broad expression in brain (RPKM 2.9), adrenal (RPKM 1.2) and 14 other tissues.

Summary

Enables hydroxymethylglutaryl-CoA lyase activity. Involved in ketone body biosynthetic process. Located in several cellular components, including cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

HMGCLL1 Products(5)

mRNA Protein Name
NM_001042406.2 NP_001035865.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform b
NM_001287741.2 NP_001274670.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform c
NM_001287746.2 NP_001274675.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform d
NM_001287753.2 NP_001274682.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform e
NM_019036.3 NP_061909.2 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform a

HMGCLL1 Protein Structure

HMGL-like

HMGL-like: HMGL-like (86 - 333)

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  • 370 a.a.
Protein Preferred Names Protein Names

3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic

3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1

Related Diseases

Diseases Alias
Alcoholic Ketoacidosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus HMGCLL1 VGNC VGNC:29878
Rattus norvegicus HMGCLL1 RGD RGD:1565090
Canis familiaris HMGCLL1 VGNC VGNC:41713
Mus musculus HMGCLL1 MGD MGI:2446108
Macaca mulatta HMGCLL1 VGNC VGNC:73429
Felis catus HMGCLL1 VGNC VGNC:102440