HMBS gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

HMBS (hydroxymethylbilane synthase)

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curator: Lishuang Shen

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HMBS gene homepage

General information
Gene symbol	HMBS
Gene name	hydroxymethylbilane synthase
Chromosome	11
Chromosomal band	q23.3
Imprinted	Unknown
Genomic reference	NC_000011.9
Transcript reference	NM_000190.3, NM_001024382.1, NM_001258208.1, NM_001258209.1, XM_005271531.1, XM_005271532.1, XM_005271533.2, XM_011542796.1
Associated with diseases	-
Citation reference(s)	-
Curators (1)	Lishuang Shen
Total number of public variants reported	0
Unique public DNA variants reported	0
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	May 09, 2016

Links to other resources
HGNC	4982
Entrez Gene	3145
PubMed articles	HMBS
OMIM - Gene	609806
HGMD	HMBS
GeneCards	HMBS
GeneTests	HMBS

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00003821	11	transcript variant 1	NM_000190.3	NP_000181.2	0
00003822	11	transcript variant 2	NM_001024382.1	NP_001019553.1	0
00003823	11	transcript variant 3	NM_001258208.1	NP_001245137.1	0
00003824	11	transcript variant 4	NM_001258209.1	NP_001245138.1	0
00003825	11	transcript variant X1	XM_005271531.1	XP_005271588.1	0
00003826	11	transcript variant X2	XM_005271532.1	XP_005271589.1	0
00003827	11	transcript variant X3	XM_005271533.2	XP_005271590.1	0
00003828	11	transcript variant X4	XM_011542796.1	XP_011541098.1	0

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