HMBS (hydroxymethylbilane synthase)

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Keyword

Gene: HMBS (hydroxymethylbilane synthase) Homo sapiens

Symbol:

HMBS

Name:

hydroxymethylbilane synthase

Description:

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

OTTHUMP00000238530; OTTHUMP00000238532; OTTHUMP00000238533; OTTHUMP00000238534; OTTHUMP00000238537; OTTHUMP00000238539; OTTHUMP00000238540; OTTHUMP00000238541; OTTHUMP00000238580; PBG-D; PBGD; PORC; porphobilinogen deaminase; porphyria, acute; Chester type; pre-uroporphyrinogen synthase; UPS; uroporphyrinogen I synthase; uroporphyrinogen I synthetase

Orthologs:

Mus musculus : Hmbs (hydroxymethylbilane synthase) MGI
Rattus norvegicus : Hmbs (hydroxymethylbilane synthase)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	11	118,820,177 - 118,828,858	+	NCBI
Human Genome Assembly HuRef	11	114,895,043 - 114,903,707	+	NCBI
Human Genome Assembly GRCh37	11	118,955,587 - 118,964,259	+	NCBI
Human Genome Assembly Build 36	11	118,460,797 - 118,469,469	+	NCBI
Human Cytogenetic Map	11	q23.3		NCBI
Human Genome Assembly	11	118,460,802 - 118,469,467		NCBI